E31Q (p.Glu31Gln) variant of FGFR4 (P22455)
E31Q (p.Glu31Gln) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E31Q (p.Glu31Gln) variant details
- p.Glu31Gln
- gnomAD 5-177089693-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.30
- CADD 35.00
- PolyPhen-2 0.93
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available