G1244E (p.Gly1244Glu) variant of CFTR (P13569)
G1244E (p.Gly1244Glu) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; drug response in the context of ivacaftor response - Efficacy; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G1244E (p.Gly1244Glu) variant details
- p.Gly1244Glu
- rs267606723
- ClinGen CA328120
- ClinVar RCV000056386
- ClinVar RCV000211150
- Pathogenic; drug response
- ivacaftor response - Efficacy; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.88
- CADD 28.50
- ClinVar: Pathogenic; drug response (ivacaftor response - Efficacy; Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Cited in: Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis. (PMID 11242048)
- Cited in: Cystic Fibrosis. (PMID 20301428)