G2R (p.Gly2Arg) variant of FGFR3 (P22607)
G2R (p.Gly2Arg) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- gnomAD 4-1793938-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.18
- MetaLR 0.28
- MetaSVM -0.66
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available