Y569D (p.Tyr569Asp) variant of CFTR (P13569)
Y569D (p.Tyr569Asp) 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.
Y569D (p.Tyr569Asp) variant details
- p.Tyr569Asp
- rs397508276
- ClinGen CA326624
- ClinVar RCV000046434
- ClinVar RCV000780130
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.89
- MetaSVM 1.00
- CADD 29.70
- 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: Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with… (PMID 9482579)
- Cited in: Cystic Fibrosis. (PMID 20301428)