A18T (p.Ala18Thr) variant of APOE (Apolipoprotein E)
A18T (p.Ala18Thr) 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 0.53 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- 1000Genomes rs533904656
- ExAC rs533904656
- TOPMed rs533904656
- gnomAD rs533904656
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.52
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available