R18Q (p.Arg18Gln) variant of IDH2 (P48735)
R18Q (p.Arg18Gln) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- TOPMed rs1453618042
- gnomAD rs1453618042
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.09
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.62
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 9.9e-05)
- Structural context available