G2C (p.Gly2Cys) variant of HSD3B2 (P26439)
G2C (p.Gly2Cys) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G2C (p.Gly2Cys) variant details
- p.Gly2Cys
- gnomAD 1-119415423-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.46
- MetaLR 0.73
- MetaSVM -0.05
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available