S22* (p.Ser22Ter) variant of FGFR3 (P22607)
S22* (p.Ser22Ter) in FGFR3 (P22607) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S22* (p.Ser22Ter) variant details
- p.Ser22Ter
- gnomAD 4-1793999-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available