V19A (p.Val19Ala) variant of HSD3B2 (P26439)
V19A (p.Val19Ala) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- cosmic curated COSV10746
- 1000Genomes rs115344376
- ExAC rs115344376
- gnomAD rs115344376
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.56
- MetaLR 0.68
- MetaSVM 0.05
- CADD 23.20
- PolyPhen-2 0.90
- SIFT 0.04
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available