E28* (p.Glu28Ter) variant of FGFR3 (P22607)
E28* (p.Glu28Ter) in FGFR3 (P22607) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- gnomAD 4-1794016-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available