R56H (p.Arg56His) variant of APOE (Apolipoprotein E)
R56H (p.Arg56His) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R56H (p.Arg56His) variant details
- p.Arg56His
- rs752790054
- ClinGen CA9505994
- NCI-TCGA Cosmic COSV9937
- ClinVar RCV001776313
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.31
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available