R52G (p.Arg52Gly) variant of HSD3B2 (P26439)
R52G (p.Arg52Gly) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R52G (p.Arg52Gly) variant details
- p.Arg52Gly
- gnomAD 1-119419429-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -0.92
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.81
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available