D43Y (p.Asp43Tyr) variant of APOL1 (Apolipoprotein L1)
D43Y (p.Asp43Tyr) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D43Y (p.Asp43Tyr) variant details
- p.Asp43Tyr
- rs187922489
- gnomAD 22-36254953-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- MetaLR 0.01
- MetaSVM -0.95
- CADD 12.20
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available