R1283M (p.Arg1283Met) variant of CFTR (P13569)
R1283M (p.Arg1283Met) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R1283M (p.Arg1283Met) variant details
- p.Arg1283Met
- rs77902683
- ClinGen CA325559
- ClinVar RCV000007587
- ClinVar RCV001731145
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.09
- CADD 27.70
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available
- Cited in: A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. (PMID 1284468)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)