R33= variant of APOL1 (Apolipoprotein L1)
R33= in APOL1 (Apolipoprotein L1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; low impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R33= variant details
- rs752361906
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10004
- ExAC rs752361906
- Variant assessed as somatic; low impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.30
- MetaLR 0.02
- MetaSVM -0.99
- PolyPhen-2 0.86
- SIFT 0.03
- MutPred 0.33
- UniProt: Variant assessed as somatic; low impact.
- Population evidence available
- Structural context available