A9A (p.Ala9Ala) variant of CFTR (P13569)
A9A (p.Ala9Ala) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A9A (p.Ala9Ala) variant details
- p.Ala9Ala
- rs1255831708
- gnomAD 7-117480121-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 17.90
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available
- Literature evidence available