C88F (p.Cys88Phe) variant of SRD5A2 (P31213)
C88F (p.Cys88Phe) 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.
C88F (p.Cys88Phe) variant details
- p.Cys88Phe
- TOPMed rs868416832
- gnomAD rs868416832
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 23.30
- PolyPhen-2 0.86
- SIFT 0.01
- Population evidence available
- Structural context available