T465N (p.Thr465Asn) variant of CFTR (P13569)
T465N (p.Thr465Asn) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; CFTR-related disorder; Congenital bilateral aplasia of vas deferen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
T465N (p.Thr465Asn) variant details
- p.Thr465Asn
- rs758900656
- ClinGen CA4451001
- ClinVar RCV000586527
- ClinVar RCV001003496
- Pathogenic/Likely pathogenic
- not provided; CFTR-related disorder; Congenital bilateral aplasia of vas deferen
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.80
- ESM-1b 0.00
- AlphaMissense 0.76
- MetaLR 0.93
- MetaSVM 1.08
- CADD 27.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; CFTR-related disorder; Congenital bilateral aplasi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)