A loss-of-function variant in ZCWPW1 causes human male infertility with sperm head defect and high DNA fragmentation

Table 2 Details of ZCWPW1 variant carried by the patient

Gene	Mutation	Zygosity	Mutation Function	Variant Classification (ACMG)	Allele frequency			Functional prediction
Gene	Mutation	Zygosity	Mutation Function	Variant Classification (ACMG)	1000G	ExAC	gnomAD	SIFT	PolyPhen-2	M-CAP	CADD
ZCWPW1NM_017984.6	rs200631169 c.1064C > T p. P355L	Homozygous	Missense	Pathogenic	NA	0.0001433	0.0001117	Probably deleterious	Deleterious	Possibly pathogenic	33

CADD: Hazard score, 10 points refer to top 10%, 20 refer to top 1%, 30 refer to top 0.1%; NA, not available

ISSN: 1742-4755