R8T (p.Arg8Thr) variant of APOL1 (Apolipoprotein L1)
R8T (p.Arg8Thr) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R8T (p.Arg8Thr) variant details
- p.Arg8Thr
- rs1391715334
- gnomAD 22-36254942-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0991
- MetaLR 0.01
- MetaSVM -0.96
- CADD 0.14
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available