A26V (p.Ala26Val) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A26V (p.Ala26Val) 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 Hypercholesterolemia, autosomal dominant, 3; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs1413443246
- ClinGen CA340482727
- ClinVar RCV001183762
- ClinVar RCV002411693
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, 3; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.16
- MetaSVM -0.93
- CADD 7.12
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, 3; Cardiovascular phen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.015)
- 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)