L12M (p.Leu12Met) variant of FGFR4 (P22455)
L12M (p.Leu12Met) 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.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- TOPMed rs1784279793
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.19
- CADD 11.70
- PolyPhen-2 0.09
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available