N1303I (p.Asn1303Ile) variant of CFTR (P13569)
N1303I (p.Asn1303Ile) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CFTR-related disorder; Congenital bilateral aplasia of vas deferens from CFTR mu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
N1303I (p.Asn1303Ile) variant details
- p.Asn1303Ile
- rs397508636
- ClinGen CA327335
- ClinVar RCV000577150
- ClinVar RCV001004512
- Pathogenic/Likely pathogenic
- CFTR-related disorder; Congenital bilateral aplasia of vas deferens from CFTR mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.92
- MetaSVM 1.07
- CADD 26.60
- ClinVar: Pathogenic/Likely pathogenic (CFTR-related disorder; Congenital bilateral aplasia of vas defer)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)