I1366N (p.Ile1366Asn) variant of CFTR (P13569)
I1366N (p.Ile1366Asn) 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.
I1366N (p.Ile1366Asn) variant details
- p.Ile1366Asn
- rs200955612
- ClinGen CA368982825
- ClinVar RCV000666972
- 1000Genomes rs200955612
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.10
- CADD 29.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SAN population (allele frequency 1)
- 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)