R46H (p.Arg46His) variant of SRD5A2 (P31213)
R46H (p.Arg46His) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R46H (p.Arg46His) variant details
- p.Arg46His
- ExAC rs768670705
- TOPMed rs768670705
- gnomAD rs768670705
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.76
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available