G2S (p.Gly2Ser) variant of FGFR3 (P22607)
G2S (p.Gly2Ser) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G2S (p.Gly2Ser) variant details
- p.Gly2Ser
- gnomAD 4-1793938-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.16
- MetaLR 0.27
- MetaSVM -0.75
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available