A10S (p.Ala10Ser) variant of HSD3B2 (P26439)
A10S (p.Ala10Ser) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- ExAC rs755248657
- gnomAD rs755248657
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.60
- MetaLR 0.71
- MetaSVM 0.40
- CADD 24.40
- PolyPhen-2 0.65
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available