R46L (p.Arg46Leu) variant of SRD5A2 (P31213)
R46L (p.Arg46Leu) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- ExAC rs768670705
- TOPMed rs768670705
- gnomAD rs768670705
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 8.86
- PolyPhen-2 0.01
- SIFT 0.79
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available