G126D (p.Gly126Asp) variant of CFTR (P13569)
G126D (p.Gly126Asp) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G126D (p.Gly126Asp) variant details
- p.Gly126Asp
- rs397508609
- ClinGen CA327290
- ClinVar RCV000577044
- ClinVar RCV001004429
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.88
- CADD 27.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)