V23A (p.Val23Ala) variant of APOL1 (Apolipoprotein L1)
V23A (p.Val23Ala) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V23A (p.Val23Ala) variant details
- p.Val23Ala
- gnomAD 22-36257106-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.09
- MetaLR 0.03
- MetaSVM -1.03
- CADD 4.14
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available