D43E (p.Asp43Glu) variant of APOL1 (Apolipoprotein L1)
D43E (p.Asp43Glu) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- gnomAD 22-36254955-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- MetaLR 0.01
- MetaSVM -0.96
- CADD 8.07
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available