M1I (p.Met1Ile) variant of CFTR (P13569)
M1I (p.Met1Ile) in CFTR (P13569) is a missense change. The available record places it in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs397508657
- ClinGen CA327373
- ClinVar RCV000757844
- ClinGen CA327375
- not provided
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- ESM-1b 0.68
- AlphaMissense 0.68
- MetaLR 0.67
- MetaSVM 0.43
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: not provided (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)