D43H (p.Asp43His) variant of APOL1 (Apolipoprotein L1)
D43H (p.Asp43His) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D43H (p.Asp43His) variant details
- p.Asp43His
- gnomAD 22-36254953-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- MetaLR 0.01
- MetaSVM -0.92
- CADD 5.76
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available