L49I (p.Leu49Ile) variant of FGFR4 (P22455)
L49I (p.Leu49Ile) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L49I (p.Leu49Ile) variant details
- p.Leu49Ile
- TOPMed rs987602724
- gnomAD rs987602724
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.10
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available