A26T (p.Ala26Thr) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A26T (p.Ala26Thr) 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 Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs1553135400
- ClinGen CA340482722
- ClinVar RCV000508903
- ClinVar RCV004023448
- Uncertain significance
- Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.11
- MetaSVM -1.05
- CADD 6.99
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)
- Cited in: Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance… (PMID 21600525)