D192G (p.Asp192Gly) variant of CFTR (P13569)
D192G (p.Asp192Gly) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D192G (p.Asp192Gly) variant details
- p.Asp192Gly
- rs397508758
- ClinGen CA327576
- ClinVar RCV000577568
- ClinVar RCV005031527
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.86
- MetaSVM 0.92
- CADD 31.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)