F17S (p.Phe17Ser) variant of CFTR (P13569)
F17S (p.Phe17Ser) in CFTR (P13569) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
F17S (p.Phe17Ser) variant details
- p.Phe17Ser
- rs397508714
- gnomAD 7-117480137-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 32.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden. (PMID 10636451)