A30V (p.Ala30Val) variant of APOL1 (Apolipoprotein L1)
A30V (p.Ala30Val) in APOL1 (Apolipoprotein L1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- rs1227980527
- gnomAD 22-36257126-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 16.80
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available