Y128C (p.Tyr128Cys) variant of SRD5A2 (P31213)
Y128C (p.Tyr128Cys) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y128C (p.Tyr128Cys) variant details
- p.Tyr128Cys
- rs762483550
- ClinGen CA1599951
- ClinVar RCV003459919
- ExAC rs762483550
- Pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available