T1036I (p.Thr1036Ile) variant of CFTR (P13569)
T1036I (p.Thr1036Ile) 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; Bronchiectasis with or without elevated sweat chloride 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
T1036I (p.Thr1036Ile) variant details
- p.Thr1036Ile
- rs397508498
- ClinGen CA368990798
- ClinVar RCV000757881
- ClinVar RCV001004292
- Pathogenic/Likely pathogenic
- CFTR-related disorder; Bronchiectasis with or without elevated sweat chloride 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.83
- MetaSVM 0.77
- CADD 25.60
- ClinVar: Pathogenic/Likely pathogenic (CFTR-related disorder; Bronchiectasis with or without elevated s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)