T60A (p.Thr60Ala) variant of APOE (Apolipoprotein E)
T60A (p.Thr60Ala) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T60A (p.Thr60Ala) variant details
- p.Thr60Ala
- rs28931576
- ClinGen CA127515
- ClinVar RCV000019457
- ClinVar RCV005384642
- Conflicting interpretations
- Cardiovascular phenotype; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.18
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Familial hypercholesterolemia)
- EBI: Pathogenic (in ApoE3 Freiburg)
- UniProt: Pathogenic (in ApoE3 Freiburg)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available