D64N (p.Asp64Asn) variant of HSD3B2 (P26439)
D64N (p.Asp64Asn) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D64N (p.Asp64Asn) variant details
- p.Asp64Asn
- gnomAD 1-119419465-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.66
- MetaLR 0.81
- MetaSVM 0.71
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available