L3M (p.Leu3Met) variant of FGFR4 (P22455)
L3M (p.Leu3Met) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L3M (p.Leu3Met) variant details
- p.Leu3Met
- gnomAD 5-177089609-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.19
- CADD 22.50
- PolyPhen-2 0.45
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available