Y242C (p.Tyr242Cys) variant of SRD5A2 (P31213)
Y242C (p.Tyr242Cys) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
Y242C (p.Tyr242Cys) variant details
- p.Tyr242Cys
- rs1553323036
- ClinGen CA346597764
- ClinVar RCV000508957
- Ensembl rs1553323036
- Likely pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.70
- ClinVar: Likely pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available