R20S (p.Arg20Ser) variant of HSD3B2 (P26439)
R20S (p.Arg20Ser) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- gnomAD 1-119415477-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.35
- MetaLR 0.35
- MetaSVM -0.65
- CADD 8.55
- PolyPhen-2 0.21
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available