A49V (p.Ala49Val) variant of SRD5A2 (P31213)
A49V (p.Ala49Val) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- ESP rs370278229
- ExAC rs370278229
- TOPMed rs370278229
- gnomAD rs370278229
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 24.20
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available