Y103H (p.Tyr103His) variant of APOB (Apolipoprotein B-100)
Y103H (p.Tyr103His) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Hypercholesterolemia, autosomal dominant, type B; Fami. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
Y103H (p.Tyr103His) variant details
- p.Tyr103His
- rs9282603
- ClinGen CA057921
- ClinVar RCV000440258
- ClinVar RCV000497185
- Conflicting interpretations
- Cardiovascular phenotype; Hypercholesterolemia, autosomal dominant, type B; Fami
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.08
- MetaLR 0.06
- MetaSVM -1.03
- CADD 14.10
- PolyPhen-2 0.02
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Hypercholesterolemia, autosomal domina)
- EBI: Benign (in dbSNP:rs9282603)
- UniProt: Benign (in dbSNP:rs9282603)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)