G2S (p.Gly2Ser) variant of HSD3B2 (P26439)
G2S (p.Gly2Ser) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G2S (p.Gly2Ser) variant details
- p.Gly2Ser
- cosmic curated COSV10468
- Ensembl rs1651675312
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.31
- MetaLR 0.59
- MetaSVM -0.30
- CADD 23.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available