F67L (p.Phe67Leu) variant of HSD3B2 (P26439)
F67L (p.Phe67Leu) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
F67L (p.Phe67Leu) variant details
- p.Phe67Leu
- gnomAD 1-119419474-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.17
- MetaLR 0.23
- MetaSVM -0.86
- CADD 13.10
- PolyPhen-2 0.02
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available