G24S (p.Gly24Ser) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G24S (p.Gly24Ser) 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; Familial hypercholesterolemia; Hypercholesterolemia, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- rs1479030404
- ClinGen CA340482711
- ClinVar RCV001190241
- ClinVar RCV003163473
- Uncertain significance
- Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.12
- MetaSVM -1.03
- CADD 7.66
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial hypercholesterolemia; Hyperch)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- 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)