S22R (p.Ser22Arg) variant of FGFR3 (P22607)
S22R (p.Ser22Arg) in FGFR3 (P22607) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S22R (p.Ser22Arg) variant details
- p.Ser22Arg
- gnomAD 4-1793995-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.202
- CADD 17.10
- Population evidence available
- Structural context available
- Literature evidence available