N169K (p.Asn169Lys) variant of HSD3B2 (P26439)
N169K (p.Asn169Lys) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypospadias 1, X-linked. The record also includes structural context.
N169K (p.Asn169Lys) variant details
- p.Asn169Lys
- rs2101349426
- ClinGen CA341396846
- ClinVar RCV003110130
- Likely pathogenic
- Hypospadias 1, X-linked
- Missense
- ClinVar: Likely pathogenic (Hypospadias 1, X-linked)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available