I1269N (p.Ile1269Asn) variant of CFTR (P13569)
I1269N (p.Ile1269Asn) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
I1269N (p.Ile1269Asn) variant details
- p.Ile1269Asn
- rs1562923253
- ClinGen CA368975073
- ClinVar RCV000785635
- Ensembl rs1562923253
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.94
- MetaSVM 1.10
- CADD 28.30
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)