A13A (p.Ala13Ala) variant of FGFR3 (P22607)
A13A (p.Ala13Ala) in FGFR3 (P22607) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- gnomAD 4-1793973-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.46
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available