I62F (p.Ile62Phe) variant of HSD3B2 (P26439)
I62F (p.Ile62Phe) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I62F (p.Ile62Phe) variant details
- p.Ile62Phe
- gnomAD 1-119419459-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.75
- MetaLR 0.74
- MetaSVM 0.54
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available