R172S (p.Arg172Ser) variant of IDH2 (P48735)
R172S (p.Arg172Ser) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vascular malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R172S (p.Arg172Ser) variant details
- p.Arg172Ser
- rs1057519736
- ClinGen CA393802238
- NCI-TCGA Cosmic COSV5746
- Pathogenic
- Vascular malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.57
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Vascular malformation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Mutant IDH1 Dysregulates the Differentiation of Mesenchymal Stem Cells in Association with Gene-Specific Histone… (PMID 26161668)