C88Y (p.Cys88Tyr) variant of SRD5A2 (P31213)
C88Y (p.Cys88Tyr) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
C88Y (p.Cys88Tyr) variant details
- p.Cys88Tyr
- TOPMed rs868416832
- gnomAD rs868416832
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 23.20
- PolyPhen-2 0.93
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available