E101A (p.Glu101Ala) variant of APOB (Apolipoprotein B-100)
E101A (p.Glu101Ala) in APOB (Apolipoprotein B-100) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E101A (p.Glu101Ala) variant details
- p.Glu101Ala
- gnomAD rs1425429158
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.48
- MetaLR 0.27
- MetaSVM -0.46
- CADD 28.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available