A3G (p.Ala3Gly) variant of FGFR3 (P22607)
A3G (p.Ala3Gly) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- gnomAD 4-1793942-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.37
- MetaLR 0.30
- MetaSVM -0.76
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available