G2D (p.Gly2Asp) variant of FGFR3 (P22607)
G2D (p.Gly2Asp) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G2D (p.Gly2Asp) variant details
- p.Gly2Asp
- gnomAD 4-1793939-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.18
- MetaLR 0.25
- MetaSVM -0.70
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available