T1036N (p.Thr1036Asn) variant of CFTR (P13569)
T1036N (p.Thr1036Asn) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T1036N (p.Thr1036Asn) variant details
- p.Thr1036Asn
- rs397508498
- ClinGen CA327046
- ClinVar RCV000577654
- ClinVar RCV000781270
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.88
- MetaSVM 0.92
- CADD 25.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)