R50S (p.Arg50Ser) variant of SRD5A2 (P31213)
R50S (p.Arg50Ser) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R50S (p.Arg50Ser) variant details
- p.Arg50Ser
- ESP rs369117426
- ExAC rs369117426
- TOPMed rs369117426
- gnomAD rs369117426
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 20.90
- PolyPhen-2 0.07
- SIFT 0.06
- Population evidence available
- Structural context available