R1070Q (p.Arg1070Gln) variant of CFTR (P13569)
R1070Q (p.Arg1070Gln) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R1070Q (p.Arg1070Gln) variant details
- p.Arg1070Gln
- rs78769542
- ClinGen CA275095
- ClinVar RCV000046825
- ClinVar RCV000660859
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.77
- MetaSVM 0.45
- CADD 26.70
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available
- Cited in: Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis. (PMID 11242048)
- Cited in: Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the… (PMID 7683628)