T42K (p.Thr42Lys) variant of APOL1 (Apolipoprotein L1)
T42K (p.Thr42Lys) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T42K (p.Thr42Lys) variant details
- p.Thr42Lys
- gnomAD 22-36257345-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.19
- MetaLR 0.02
- MetaSVM -1.02
- CADD 4.68
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available