E42Q (p.Glu42Gln) variant of FGFR4 (P22455)
E42Q (p.Glu42Gln) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E42Q (p.Glu42Gln) variant details
- p.Glu42Gln
- gnomAD 5-177090422-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.14
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available