K503E (p.Lys503Glu) variant of CFTR (P13569)
K503E (p.Lys503Glu) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
K503E (p.Lys503Glu) variant details
- p.Lys503Glu
- rs2485065692
- ClinGen CA368984655
- ClinVar RCV002390025
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.83
- MetaSVM 0.83
- CADD 26.80
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- 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)