Y91H (p.Tyr91His) variant of SRD5A2 (P31213)
Y91H (p.Tyr91His) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Y91H (p.Tyr91His) variant details
- p.Tyr91His
- rs201175894
- ClinGen CA1599996
- ClinVar RCV000582682
- ClinVar RCV001821707
- Pathogenic/Likely pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 24.20
- PolyPhen-2 0.25
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; not prov)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available