L11C (p.Leu11Cys) variant of FGFR4 (P22455)
L11C (p.Leu11Cys) in FGFR4 (P22455) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L11C (p.Leu11Cys) variant details
- p.Leu11Cys
- gnomAD 5-177089631-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available