K51R (p.Lys51Arg) variant of APOB (Apolipoprotein B-100)
K51R (p.Lys51Arg) 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 Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K51R (p.Lys51Arg) variant details
- p.Lys51Arg
- rs764776276
- ClinGen CA053879
- NCI-TCGA Cosmic COSV5193
- cosmic curated COSV51934
- Conflicting interpretations
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.20
- MetaLR 0.25
- MetaSVM -0.47
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.45
- ClinVar: Conflicting classifications of pathogenicity (Hypercholesterolemia, autosomal dominant, type B; Familial hypob)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)