H1375P (p.His1375Pro) variant of CFTR (P13569)
H1375P (p.His1375Pro) 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 0.83 / 1. The record also includes published literature and structural context.
H1375P (p.His1375Pro) variant details
- p.His1375Pro
- rs397508678
- ClinGen CA327412
- ClinVar RCV000757787
- ExAC rs397508678
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- ESM-1b 1.00
- AlphaMissense 0.62
- MetaLR 0.75
- MetaSVM 0.52
- PolyPhen-2 0.94
- SIFT 0.06
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)