C6F (p.Cys6Phe) variant of FGFR3 (P22607)
C6F (p.Cys6Phe) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C6F (p.Cys6Phe) variant details
- p.Cys6Phe
- gnomAD 4-1793951-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.21
- MetaLR 0.31
- MetaSVM -0.78
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available