R32K (p.Arg32Lys) variant of HSD3B2 (P26439)
R32K (p.Arg32Lys) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R32K (p.Arg32Lys) variant details
- p.Arg32Lys
- gnomAD 1-119415514-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.71
- MetaLR 0.82
- MetaSVM 0.82
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available