G2V (p.Gly2Val) variant of HSD3B2 (P26439)
G2V (p.Gly2Val) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- rs116449508
- ClinGen CA1035856
- ClinVar RCV000893174
- ClinVar RCV003940735
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.52
- MetaLR 0.68
- MetaSVM 0.28
- CADD 22.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.022)
- Structural context available