S18Q (p.Ser18Gln) variant of CFTR (P13569)
S18Q (p.Ser18Gln) in CFTR (P13569) is a protein-truncating 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.
S18Q (p.Ser18Gln) variant details
- p.Ser18Gln
- rs397508714
- gnomAD 7-117480137-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 33.00
- Population evidence available
- Structural context available
- Cited in: Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden. (PMID 10636451)