Q98R (p.Gln98Arg) variant of CFTR (P13569)
Q98R (p.Gln98Arg) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q98R (p.Gln98Arg) variant details
- p.Gln98Arg
- rs397508464
- ClinGen CA326985
- ClinVar RCV000505966
- ClinVar RCV000588283
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 1.02
- CADD 27.50
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available
- Cited in: Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult. (PMID 7581407)
- Cited in: Cystic Fibrosis. (PMID 20301428)