R1283K (p.Arg1283Lys) variant of CFTR (P13569)
R1283K (p.Arg1283Lys) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R1283K (p.Arg1283Lys) variant details
- p.Arg1283Lys
- rs77902683
- ClinGen CA327307
- NCI-TCGA Cosmic COSV9913
- ClinVar RCV000506393
- Uncertain significance
- not specified; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.91
- MetaSVM 1.02
- CADD 26.90
- ClinVar: Uncertain significance (not specified; Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- 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)