C88Y (p.Cys88Tyr) variant of APOB (Apolipoprotein B-100)
C88Y (p.Cys88Tyr) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
C88Y (p.Cys88Tyr) variant details
- p.Cys88Tyr
- rs1290557659
- ClinGen CA345964305
- ClinVar RCV000985336
- ClinVar RCV005225177
- Uncertain significance
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.52
- MetaLR 0.07
- MetaSVM -1.11
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)