G2C (p.Gly2Cys) variant of FGFR3 (P22607)
G2C (p.Gly2Cys) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G2C (p.Gly2Cys) variant details
- p.Gly2Cys
- gnomAD 4-1793938-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.24
- MetaLR 0.30
- MetaSVM -0.74
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available