C11F (p.Cys11Phe) variant of FGFR3 (P22607)
C11F (p.Cys11Phe) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
C11F (p.Cys11Phe) variant details
- p.Cys11Phe
- gnomAD 4-1793966-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.16
- MetaLR 0.22
- MetaSVM -0.87
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available