E42K (p.Glu42Lys) variant of FGFR4 (P22455)
E42K (p.Glu42Lys) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- 1000Genomes rs528745108
- ExAC rs528745108
- gnomAD rs528745108
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.22
- CADD 19.80
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available