A5C (p.Ala5Cys) variant of FGFR3 (P22607)
A5C (p.Ala5Cys) in FGFR3 (P22607) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A5C (p.Ala5Cys) variant details
- p.Ala5Cys
- gnomAD 4-1793941-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available