W1098R (p.Trp1098Arg) variant of CFTR (P13569)
W1098R (p.Trp1098Arg) 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.
W1098R (p.Trp1098Arg) variant details
- p.Trp1098Arg
- rs397508531
- ClinGen CA327130
- ClinVar RCV000577522
- ClinVar RCV000985688
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 1.00
- CADD 29.20
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane… (PMID 7537150)
- Cited in: Cystic Fibrosis. (PMID 20301428)