A44V (p.Ala44Val) variant of SRD5A2 (P31213)
A44V (p.Ala44Val) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- ExAC rs765140743
- TOPMed rs765140743
- gnomAD rs765140743
- Missense
- Variant Prioritization Score for Impact Estimate 0.0899
- CADD 3.08
- PolyPhen-2 0.01
- SIFT 0.59
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available