L49V (p.Leu49Val) variant of FGFR4 (P22455)
L49V (p.Leu49Val) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L49V (p.Leu49Val) variant details
- p.Leu49Val
- gnomAD 5-177090443-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.09
- CADD 7.95
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available