D42E (p.Asp42Glu) variant of APOB (Apolipoprotein B-100)
D42E (p.Asp42Glu) in APOB (Apolipoprotein B-100) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- TOPMed rs965256806
- gnomAD rs965256806
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -1.00
- CADD 13.30
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available