M1101R (p.Met1101Arg) variant of CFTR (P13569)
M1101R (p.Met1101Arg) 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 0.67 / 1. The record also includes published literature and structural context.
M1101R (p.Met1101Arg) variant details
- p.Met1101Arg
- rs36210737
- ClinGen CA327137
- ClinVar RCV000508206
- ClinVar RCV000785632
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.37
- MetaSVM -0.38
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Structural context available
- Cited in: Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the… (PMID 7683628)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)