R29H (p.Arg29His) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R29H (p.Arg29His) 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; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R29H (p.Arg29His) variant details
- p.Arg29His
- rs1160058809
- ClinGen CA340482741
- ClinVar RCV002998883
- ClinVar RCV004065232
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, 3; Cardiovascular phenotype; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.11
- ESM-1b 0.51
- AlphaMissense 0.12
- MetaLR 0.14
- MetaSVM -1.00
- CADD 11.40
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, 3; Cardiovascular phen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)