A18D (p.Ala18Asp) variant of FGFR3 (P22607)
A18D (p.Ala18Asp) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD 4-1793987-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.19
- MetaLR 0.22
- MetaSVM -0.85
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available