E29K (p.Glu29Lys) variant of APOB (Apolipoprotein B-100)
E29K (p.Glu29Lys) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- rs768728964
- ClinGen CA065835
- cosmic curated COSV10508
- ClinVar RCV000775600
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.97
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, type B; Familial hypob)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)