R33H (p.Arg33His) variant of APOE (Apolipoprotein E)
R33H (p.Arg33His) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R33H (p.Arg33His) variant details
- p.Arg33His
- TOPMed rs1212454788
- gnomAD rs1212454788
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.31
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available