C6W (p.Cys6Trp) variant of FGFR3 (P22607)
C6W (p.Cys6Trp) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
C6W (p.Cys6Trp) variant details
- p.Cys6Trp
- gnomAD 4-1793952-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.23
- MetaLR 0.24
- MetaSVM -0.78
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available