D37E (p.Asp37Glu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
D37E (p.Asp37Glu) 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 not provided; Hypercholesterolemia, autosomal dominant, 3; Cardiovascular phenot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D37E (p.Asp37Glu) variant details
- p.Asp37Glu
- rs1210705445
- ClinGen CA340482796
- ClinVar RCV002437815
- ClinVar RCV003481312
- Uncertain significance
- not provided; Hypercholesterolemia, autosomal dominant, 3; Cardiovascular phenot
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.15
- MetaSVM -0.98
- CADD 14.10
- ClinVar: Uncertain significance (not provided; Hypercholesterolemia, autosomal dominant, 3; Cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)