D33N (p.Asp33Asn) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
D33N (p.Asp33Asn) 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; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- rs917219621
- ClinGen CA22792017
- ClinVar RCV001190553
- ClinVar RCV001876229
- Uncertain significance
- Familial hypercholesterolemia; Hypercholesterolemia, autosomal dominant, 3; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.17
- ESM-1b 0.86
- AlphaMissense 0.10
- MetaLR 0.21
- MetaSVM -0.72
- CADD 16.50
- ClinVar: Uncertain significance (Familial hypercholesterolemia; Hypercholesterolemia, autosomal d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)