A30E (p.Ala30Glu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A30E (p.Ala30Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A30E (p.Ala30Glu) variant details
- p.Ala30Glu
- rs958750957
- ClinGen CA340482747
- ClinVar RCV001187942
- gnomAD rs958750957
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.23
- ESM-1b 0.40
- AlphaMissense 0.11
- MetaLR 0.33
- MetaSVM -0.35
- CADD 18.70
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)