C13A (p.Cys13Ala) variant of APOL1 (Apolipoprotein L1)
C13A (p.Cys13Ala) in APOL1 (Apolipoprotein L1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
C13A (p.Cys13Ala) variant details
- p.Cys13Ala
- gnomAD 22-36254926-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 1.77
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available