Y91D (p.Tyr91Asp) variant of SRD5A2 (P31213)
Y91D (p.Tyr91Asp) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
Y91D (p.Tyr91Asp) variant details
- p.Tyr91Asp
- rs201175894
- ClinGen CA1599995
- ClinVar RCV000581450
- ClinVar RCV004767421
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 24.30
- PolyPhen-2 0.25
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available