R560S (p.Arg560Ser) variant of CFTR (P13569)
R560S (p.Arg560Ser) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R560S (p.Arg560Ser) variant details
- p.Arg560Ser
- rs397508267
- ClinGen CA368976988
- ClinVar RCV002414535
- UniProt VAR 000185
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.03
- CADD 24.70
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with… (PMID 9482579)
- Cited in: Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement.… (PMID 10094564)