R33K (p.Arg33Lys) variant of APOL1 (Apolipoprotein L1)
R33K (p.Arg33Lys) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R33K (p.Arg33Lys) variant details
- p.Arg33Lys
- gnomAD 22-36257136-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.01
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available