E28D (p.Glu28Asp) variant of FGFR3 (P22607)
E28D (p.Glu28Asp) 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.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- gnomAD 4-1794018-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.10
- MetaLR 0.33
- MetaSVM -0.74
- CADD 22.00
- PolyPhen-2 0.08
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available