S13F (p.Ser13Phe) variant of CFTR (P13569)
S13F (p.Ser13Phe) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
S13F (p.Ser13Phe) variant details
- p.Ser13Phe
- rs397508635
- ClinGen CA327334
- ClinVar RCV000577001
- ClinVar RCV000759040
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Structural context available
- Cited in: Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. (PMID 9554753)
- Cited in: Cystic Fibrosis. (PMID 20301428)