H48Y (p.His48Tyr) variant of APOB (Apolipoprotein B-100)
H48Y (p.His48Tyr) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H48Y (p.His48Tyr) variant details
- p.His48Tyr
- TOPMed rs1664155527
- gnomAD rs1664155527
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.14
- MetaLR 0.04
- MetaSVM -1.14
- CADD 23.10
- PolyPhen-2 0.75
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available