A28T (p.Ala28Thr) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A28T (p.Ala28Thr) 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 specified; Hypercholesterolemia, autosomal dominant, 3; Cardiovascular pheno. 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.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- rs547860327
- ClinGen CA044814
- ClinVar RCV004016349
- 1000Genomes rs547860327
- Uncertain significance
- not specified; Hypercholesterolemia, autosomal dominant, 3; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.13
- MetaSVM -1.04
- CADD 6.94
- ClinVar: Uncertain significance (not specified; Hypercholesterolemia, autosomal dominant, 3; Card)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- 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)