M1K (p.Met1Lys) variant of CFTR (P13569)
M1K (p.Met1Lys) 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 0.41 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs397508476
- ClinGen CA327003
- ClinVar RCV000577491
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- ESM-1b 0.00
- AlphaMissense 0.75
- MetaLR 0.59
- MetaSVM 0.20
- PolyPhen-2 0.59
- SIFT 0.00
- 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)