C56* (p.Cys56Ter) variant of FGFR4 (P22455)
C56* (p.Cys56Ter) in FGFR4 (P22455) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
C56* (p.Cys56Ter) variant details
- p.Cys56Ter
- gnomAD 5-177090466-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 37.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available