V57G (p.Val57Gly) variant of HSD3B2 (P26439)
V57G (p.Val57Gly) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V57G (p.Val57Gly) variant details
- p.Val57Gly
- gnomAD 1-119419445-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.65
- MetaLR 0.73
- MetaSVM 0.33
- CADD 23.50
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available