C11W (p.Cys11Trp) variant of FGFR3 (P22607)
C11W (p.Cys11Trp) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
C11W (p.Cys11Trp) variant details
- p.Cys11Trp
- gnomAD 4-1793967-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.33
- MetaLR 0.18
- MetaSVM -0.82
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available