E50Q (p.Glu50Gln) variant of FAS (P25445)
E50Q (p.Glu50Gln) in FAS (P25445) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E50Q (p.Glu50Gln) variant details
- p.Glu50Gln
- gnomAD 10-89003146-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 16.80
- PolyPhen-2 0.91
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available