E28E (p.Glu28Glu) variant of FGFR3 (P22607)
E28E (p.Glu28Glu) in FGFR3 (P22607) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E28E (p.Glu28Glu) variant details
- p.Glu28Glu
- rs1490812161
- gnomAD 4-1794018-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 13.00
- Most common in the Latino/Admixed American population (allele frequency 8.2e-05)
- Structural context available
- Literature evidence available