G2V (p.Gly2Val) variant of FGFR3 (P22607)
G2V (p.Gly2Val) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- gnomAD 4-1793939-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.21
- MetaLR 0.28
- MetaSVM -0.79
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available