E28G (p.Glu28Gly) variant of FGFR3 (P22607)
E28G (p.Glu28Gly) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- gnomAD 4-1794017-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.12
- MetaLR 0.37
- MetaSVM -0.68
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available
- Literature evidence available