A18V (p.Ala18Val) variant of APOL1 (Apolipoprotein L1)
A18V (p.Ala18Val) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- TOPMed rs1170219039
- gnomAD rs1170219039
- Missense
- Variant Prioritization Score for Impact Estimate 0.0884
- REVEL 0.07
- CADD 0.83
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available