R154H (p.Arg154His) variant of APOE (Apolipoprotein E)
R154H (p.Arg154His) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial type 3 hyperlipoproteinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R154H (p.Arg154His) variant details
- p.Arg154His
- 1000Genomes rs200703101
- Likely pathogenic
- Familial type 3 hyperlipoproteinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.57
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial type 3 hyperlipoproteinemia)
- EBI: Likely pathogenic (in HLPP3)
- UniProt: Likely pathogenic (in HLPP3)
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available