A7A (p.Ala7Ala) variant of FGFR3 (P22607)
A7A (p.Ala7Ala) in FGFR3 (P22607) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A7A (p.Ala7Ala) variant details
- p.Ala7Ala
- rs779195790
- gnomAD 4-1793955-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 14.30
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available