E40K (p.Glu40Lys) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E40K (p.Glu40Lys) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Hypercholesterolemia, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs1416330878
- ClinGen CA340482812
- ClinVar RCV001057193
- ClinVar RCV003581771
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Hypercholesterolemia, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.23
- MetaSVM -0.78
- CADD 24.80
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Hypercholesterolemia, au)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- 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)