C6A (p.Cys6Ala) variant of FGFR3 (P22607)
C6A (p.Cys6Ala) in FGFR3 (P22607) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C6A (p.Cys6Ala) variant details
- p.Cys6Ala
- gnomAD 4-1793949-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 19.60
- Population evidence available
- Structural context available
- Literature evidence available