A18T (p.Ala18Thr) variant of APOL1 (Apolipoprotein L1)
A18T (p.Ala18Thr) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- ExAC rs762049462
- TOPMed rs762049462
- gnomAD rs762049462
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.02
- CADD 2.55
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available