R70K (p.Arg70Lys) variant of HSD3B2 (P26439)
R70K (p.Arg70Lys) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R70K (p.Arg70Lys) variant details
- p.Arg70Lys
- ExAC rs772162284
- gnomAD rs772162284
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.20
- MetaLR 0.20
- MetaSVM -0.84
- CADD 0.17
- PolyPhen-2 0.01
- SIFT 0.58
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available