I175V (p.Ile175Val) variant of CFTR (P13569)
I175V (p.Ile175Val) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bronchiectasis with or without elevated sweat chloride 1; Hereditary pancreatiti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I175V (p.Ile175Val) variant details
- p.Ile175Val
- rs397508744
- ClinGen CA327547
- ClinVar RCV000577574
- ClinVar RCV003474607
- Pathogenic/Likely pathogenic
- Bronchiectasis with or without elevated sweat chloride 1; Hereditary pancreatiti
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.75
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.76
- MetaSVM 0.60
- CADD 25.70
- ClinVar: Pathogenic/Likely pathogenic (Bronchiectasis with or without elevated sweat chloride 1; Heredi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)