S36T (p.Ser36Thr) variant of APOB (Apolipoprotein B-100)
S36T (p.Ser36Thr) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype; Hypercholesterolemia, autosomal dominant, type B; Fami. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
S36T (p.Ser36Thr) variant details
- p.Ser36Thr
- rs200464882
- ClinGen CA044850
- ClinVar RCV000775599
- ClinVar RCV002067321
- Likely benign
- Cardiovascular phenotype; Hypercholesterolemia, autosomal dominant, type B; Fami
- Missense
- Variant Prioritization Score for Impact Estimate 0.0642
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.93
- CADD 3.37
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Likely benign (Cardiovascular phenotype; Hypercholesterolemia, autosomal domina)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)