R45Q (p.Arg45Gln) variant of APOB (Apolipoprotein B-100)
R45Q (p.Arg45Gln) 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 Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- rs757862180
- ClinGen CA052980
- cosmic curated COSV10508
- ClinVar RCV003072942
- Likely benign
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.20
- MetaLR 0.03
- MetaSVM -1.19
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely benign (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)