A18A (p.Ala18Ala) variant of FGFR3 (P22607)
A18A (p.Ala18Ala) in FGFR3 (P22607) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- gnomAD 4-1793988-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 9.13
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available