S1251N (p.Ser1251Asn) variant of CFTR (P13569)
S1251N (p.Ser1251Asn) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
S1251N (p.Ser1251Asn) variant details
- p.Ser1251Asn
- rs74503330
- ClinGen CA325603
- ClinVar RCV000007638
- ClinVar RCV000211301
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.98
- MetaSVM 1.05
- CADD 26.50
- 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: Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a… (PMID 1284534)
- Cited in: Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and… (PMID 7504969)