L14V (p.Leu14Val) variant of HSD3B2 (P26439)
L14V (p.Leu14Val) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- ESP rs377504860
- ExAC rs377504860
- gnomAD rs377504860
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.43
- MetaLR 0.40
- MetaSVM -0.44
- CADD 22.20
- PolyPhen-2 0.76
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available