H48L (p.His48Leu) variant of APOB (Apolipoprotein B-100)
H48L (p.His48Leu) 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 Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H48L (p.His48Leu) variant details
- p.His48Leu
- rs1415387096
- ClinGen CA345965254
- ClinVar RCV001178440
- ClinVar RCV002558881
- Uncertain significance
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.12
- MetaLR 0.02
- MetaSVM -1.07
- CADD 23.90
- PolyPhen-2 0.71
- SIFT 0.06
- ClinVar: Uncertain significance (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)