T44A (p.Thr44Ala) variant of APOL1 (Apolipoprotein L1)
T44A (p.Thr44Ala) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
T44A (p.Thr44Ala) variant details
- p.Thr44Ala
- ExAC rs773315492
- TOPMed rs773315492
- gnomAD rs773315492
- Missense
- Variant Prioritization Score for Impact Estimate 0.0691
- REVEL 0.08
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the South Asian population (allele frequency 0.00088)
- Structural context available