E130G (p.Glu130Gly) variant of APOB (Apolipoprotein B-100)
E130G (p.Glu130Gly) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E130G (p.Glu130Gly) variant details
- p.Glu130Gly
- rs759513027
- NCI-TCGA Cosmic COSV9926
- cosmic curated COSV99268
- ExAC rs759513027
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.21
- MetaLR 0.05
- MetaSVM -1.18
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available