R89C (p.Arg89Cys) variant of IDH2 (P48735)
R89C (p.Arg89Cys) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R89C (p.Arg89Cys) variant details
- p.Arg89Cys
- rs997901344
- ClinGen CA274626561
- cosmic curated COSV57476
- ClinVar RCV000494115
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.81
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available