S549R (p.Ser549Arg) variant of CFTR (P13569)
S549R (p.Ser549Arg) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S549R (p.Ser549Arg) variant details
- p.Ser549Arg
- rs121909005
- ClinGen CA368976076
- ClinVar RCV000576753
- ClinVar RCV002248790
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.03
- CADD 26.80
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available
- Cited in: Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative… (PMID 1712898)
- Cited in: Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic… (PMID 2236053)