G12R (p.Gly12Arg) variant of HSD3B2 (P26439)
G12R (p.Gly12Arg) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- ExAC rs753134237
- TOPMed rs753134237
- gnomAD rs753134237
- cosmic curated COSV65594
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.06
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available