C88R (p.Cys88Arg) variant of APOB (Apolipoprotein B-100)
C88R (p.Cys88Arg) 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 Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
C88R (p.Cys88Arg) variant details
- p.Cys88Arg
- rs751831504
- ClinGen CA056938
- ClinVar RCV003781155
- ExAC rs751831504
- Likely benign
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.65
- MetaLR 0.06
- MetaSVM -1.12
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely benign (Hypercholesterolemia, autosomal dominant, type B; Familial hypob)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)