R29R (p.Arg29Arg) variant of CFTR (P13569)
R29R (p.Arg29Arg) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R29R (p.Arg29Arg) variant details
- p.Arg29Arg
- gnomAD 7-117504286-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 12.60
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Literature evidence available