A43V (p.Ala43Val) variant of SRD5A2 (P31213)
A43V (p.Ala43Val) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- TOPMed rs1667065160
- Missense
- Variant Prioritization Score for Impact Estimate 0.0631
- CADD 0.68
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available