A559S (p.Ala559Ser) variant of CFTR (P13569)
A559S (p.Ala559Ser) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
A559S (p.Ala559Ser) variant details
- p.Ala559Ser
- rs75549581
- ClinGen CA368976209
- ClinVar RCV001228121
- ESP rs75549581
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.42
- MetaLR 0.95
- MetaSVM 1.09
- CADD 26.20
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Population evidence available
- 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)