Q32P (p.Gln32Pro) variant of IDH2 (P48735)
Q32P (p.Gln32Pro) in IDH2 (P48735) is a missense change. Clinical records from ClinVar 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.
Q32P (p.Gln32Pro) variant details
- p.Gln32Pro
- TOPMed rs1377173957
- gnomAD rs1377173957
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.18
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available