D43G (p.Asp43Gly) variant of APOL1 (Apolipoprotein L1)
D43G (p.Asp43Gly) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D43G (p.Asp43Gly) variant details
- p.Asp43Gly
- ExAC rs748410527
- TOPMed rs748410527
- gnomAD rs748410527
- Missense
- Variant Prioritization Score for Impact Estimate 0.0995
- REVEL 0.12
- CADD 0.00
- PolyPhen-2 0.10
- SIFT 0.53
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available