D2G (p.Asp2Gly) variant of APOB (Apolipoprotein B-100)
D2G (p.Asp2Gly) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- Ensembl rs1664204321
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.03
- MetaLR 0.00
- MetaSVM -0.93
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available