V23M (p.Val23Met) variant of HSD3B2 (P26439)
V23M (p.Val23Met) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V23M (p.Val23Met) variant details
- p.Val23Met
- ExAC rs773237182
- TOPMed rs773237182
- gnomAD rs773237182
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.40
- MetaLR 0.40
- MetaSVM -0.51
- CADD 8.65
- PolyPhen-2 0.29
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available