Y563D (p.Tyr563Asp) variant of CFTR (P13569)
Y563D (p.Tyr563Asp) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Y563D (p.Tyr563Asp) variant details
- p.Tyr563Asp
- rs121909006
- ClinGen CA326608
- ClinVar RCV000577631
- TOPMed rs121909006
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.92
- MetaSVM 1.07
- CADD 29.30
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)