A18G (p.Ala18Gly) variant of FGFR3 (P22607)
A18G (p.Ala18Gly) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- gnomAD 4-1793987-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.15
- MetaLR 0.22
- MetaSVM -0.87
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available