E34K (p.Glu34Lys) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E34K (p.Glu34Lys) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypobetalipoproteinemia; Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- rs371030381
- ClinGen CA034587
- ClinVar RCV000644532
- ClinVar RCV000775253
- Uncertain significance
- Hypobetalipoproteinemia; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.04
- ESM-1b 0.68
- AlphaMissense 0.10
- MetaLR 0.14
- MetaSVM -0.99
- CADD 22.80
- ClinVar: Uncertain significance (Hypobetalipoproteinemia; Cardiovascular phenotype; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)