Q552K (p.Gln552Lys) variant of CFTR (P13569)
Q552K (p.Gln552Lys) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
Q552K (p.Gln552Lys) variant details
- p.Gln552Lys
- rs76554633
- ClinGen CA368976108
- ClinVar RCV000757794
- ClinVar RCV004526767
- Conflicting interpretations
- not specified; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.92
- MetaSVM 1.07
- CADD 29.90
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)