R33S (p.Arg33Ser) variant of APOL1 (Apolipoprotein L1)
R33S (p.Arg33Ser) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R33S (p.Arg33Ser) variant details
- p.Arg33Ser
- ExAC rs752361906
- gnomAD rs752361906
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- AlphaMissense 0.30
- MetaLR 0.02
- MetaSVM -0.99
- CADD 19.80
- PolyPhen-2 0.86
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available