G36S (p.Gly36Ser) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G36S (p.Gly36Ser) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G36S (p.Gly36Ser) variant details
- p.Gly36Ser
- rs757753730
- ClinGen CA034887
- ClinVar RCV001181022
- ClinVar RCV001321345
- Uncertain significance
- Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -0.96
- CADD 13.60
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial hypercholesterolemia; Hyperch)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)