E32K (p.Glu32Lys) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E32K (p.Glu32Lys) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Homozygous familial hypercholesterolemia; Hypercholesterolemia, autosomal domina. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- rs564427867
- ClinGen CA045184
- ClinVar RCV000331053
- ClinVar RCV000775016
- Pathogenic/Likely pathogenic
- Homozygous familial hypercholesterolemia; Hypercholesterolemia, autosomal domina
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.43
- ESM-1b 0.47
- AlphaMissense 0.12
- MetaLR 0.20
- MetaSVM -0.95
- CADD 22.30
- ClinVar: Pathogenic/Likely pathogenic (Homozygous familial hypercholesterolemia; Hypercholesterolemia,)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)