E39W (p.Glu39Trp) variant of FGFR4 (P22455)
E39W (p.Glu39Trp) in FGFR4 (P22455) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E39W (p.Glu39Trp) variant details
- p.Glu39Trp
- rs1278695971
- gnomAD 5-177090409-C-CCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available