E31E (p.Glu31Glu) variant of FGFR4 (P22455)
E31E (p.Glu31Glu) in FGFR4 (P22455) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E31E (p.Glu31Glu) variant details
- p.Glu31Glu
- gnomAD 5-177090391-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available