H231Y (p.His231Tyr) variant of SRD5A2 (P31213)
H231Y (p.His231Tyr) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in PPSH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
H231Y (p.His231Tyr) variant details
- p.His231Tyr
- rs1241588085
- ClinVar RCV001726692
- TOPMed rs1241588085
- gnomAD rs1241588085
- no classification for the single variant
- in PPSH
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: no classification for the single variant (in PPSH)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available