L49F (p.Leu49Phe) variant of FGFR4 (P22455)
L49F (p.Leu49Phe) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L49F (p.Leu49Phe) variant details
- p.Leu49Phe
- TOPMed rs987602724
- gnomAD rs987602724
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.19
- CADD 16.00
- PolyPhen-2 0.30
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available