L49R (p.Leu49Arg) variant of FGFR4 (P22455)
L49R (p.Leu49Arg) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L49R (p.Leu49Arg) variant details
- p.Leu49Arg
- 1000Genomes rs780226734
- ExAC rs780226734
- gnomAD rs780226734
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.32
- CADD 22.30
- PolyPhen-2 0.47
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available