T98I (p.Thr98Ile) variant of APOB (Apolipoprotein B-100)
T98I (p.Thr98Ile) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; Familial hypobetalipoproteinemia 1; Hypercholesterolem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T98I (p.Thr98Ile) variant details
- p.Thr98Ile
- rs1367117
- ClinGen CA022817
- cosmic curated COSV51928
- ClinVar RCV000116386
- Benign/Likely benign
- Cardiovascular phenotype; Familial hypobetalipoproteinemia 1; Hypercholesterolem
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.09
- MetaLR 0.00
- MetaSVM -1.05
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; Familial hypobetalipoproteinemia 1; Hy)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. (PMID 12551903)
- Cited in: Biological, clinical and population relevance of 95 loci for blood lipids. (PMID 20686565)