S4G (p.Ser4Gly) variant of HSD3B2 (P26439)
S4G (p.Ser4Gly) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S4G (p.Ser4Gly) variant details
- p.Ser4Gly
- TOPMed rs1271030484
- gnomAD rs1271030484
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.42
- MetaLR 0.64
- MetaSVM 0.17
- CADD 23.40
- PolyPhen-2 0.20
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available