I618T (p.Ile618Thr) variant of CFTR (P13569)
I618T (p.Ile618Thr) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
I618T (p.Ile618Thr) variant details
- p.Ile618Thr
- rs139468767
- ClinGen CA221010
- ClinVar RCV000046494
- ClinVar RCV000790746
- Pathogenic/Likely pathogenic
- CFTR-related disorder; Congenital bilateral aplasia of vas deferens from CFTR mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 25.90
- PolyPhen-2 0.73
- SIFT 0.03
- 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 Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis… (PMID 9736778)
- Cited in: Cystic Fibrosis. (PMID 20301428)