L49H (p.Leu49His) variant of FGFR4 (P22455)
L49H (p.Leu49His) 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.
L49H (p.Leu49His) variant details
- p.Leu49His
- 1000Genomes rs780226734
- ExAC rs780226734
- gnomAD rs780226734
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.30
- CADD 22.40
- PolyPhen-2 0.64
- SIFT 0.02
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available