V7M (p.Val7Met) variant of HSD3B2 (P26439)
V7M (p.Val7Met) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V7M (p.Val7Met) variant details
- p.Val7Met
- TOPMed rs999438655
- gnomAD rs999438655
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.76
- MetaLR 0.89
- MetaSVM 0.91
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available