Y52H (p.Tyr52His) variant of APOB (Apolipoprotein B-100)
Y52H (p.Tyr52His) 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 Cardiovascular phenotype; Hypercholesterolemia, autosomal dominant, type B; Fami. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Y52H (p.Tyr52His) variant details
- p.Tyr52His
- rs757747864
- ClinGen CA053900
- ClinVar RCV000497025
- ClinVar RCV001180280
- Uncertain significance
- Cardiovascular phenotype; Hypercholesterolemia, autosomal dominant, type B; Fami
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.69
- MetaLR 0.64
- MetaSVM 0.36
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypercholesterolemia, autosomal domina)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)