Q2Q (p.Gln2Gln) variant of CFTR (P13569)
Q2Q (p.Gln2Gln) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Q2Q (p.Gln2Gln) variant details
- p.Gln2Gln
- gnomAD 7-117480100-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 14.10
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Literature evidence available