Y129C (p.Tyr129Cys) variant of APOB (Apolipoprotein B-100)
Y129C (p.Tyr129Cys) 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 Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y129C (p.Tyr129Cys) variant details
- p.Tyr129Cys
- rs201368319
- ClinGen CA060102
- ClinVar RCV000578022
- ClinVar RCV000578076
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.24
- MetaLR 0.24
- MetaSVM -0.47
- CADD 23.90
- PolyPhen-2 0.89
- SIFT 0.08
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, type B; Familial hypob)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)