E39K (p.Glu39Lys) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E39K (p.Glu39Lys) 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 Familial hypercholesterolemia; Hypercholesterolemia, autosomal dominant, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- rs781590513
- ClinGen CA035375
- ClinVar RCV001181023
- ClinVar RCV001876014
- Uncertain significance
- Familial hypercholesterolemia; Hypercholesterolemia, autosomal dominant, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.15
- ESM-1b 0.25
- AlphaMissense 0.13
- MetaLR 0.23
- MetaSVM -0.85
- CADD 22.30
- ClinVar: Uncertain significance (Familial hypercholesterolemia; Hypercholesterolemia, autosomal d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)