T42I (p.Thr42Ile) variant of APOL1 (Apolipoprotein L1)
T42I (p.Thr42Ile) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T42I (p.Thr42Ile) variant details
- p.Thr42Ile
- TOPMed rs909415556
- gnomAD rs909415556
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.19
- CADD 14.70
- PolyPhen-2 0.43
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available