G45E (p.Gly45Glu) variant of APOL1 (Apolipoprotein L1)
G45E (p.Gly45Glu) in APOL1 (Apolipoprotein L1) 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 0.09 / 1. The record also includes population frequency data and structural context.
G45E (p.Gly45Glu) variant details
- p.Gly45Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.091
- REVEL 0.09
- CADD 4.14
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available