A13G (p.Ala13Gly) variant of FGFR3 (P22607)
A13G (p.Ala13Gly) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A13G (p.Ala13Gly) variant details
- p.Ala13Gly
- gnomAD 4-1793972-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.17
- MetaLR 0.20
- MetaSVM -0.84
- CADD 18.40
- PolyPhen-2 0.04
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available