R172G (p.Arg172Gly) variant of IDH2 (P48735)
R172G (p.Arg172Gly) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maffucci syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R172G (p.Arg172Gly) variant details
- p.Arg172Gly
- rs1057519906
- ClinGen CA16602874
- NCI-TCGA Cosmic COSV5746
- Likely pathogenic
- Maffucci syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Maffucci syndrome)
- EBI: Pathogenic (in GLM)
- UniProt: Pathogenic (in GLM)
- Structural context available
- Cited in: IDH1 and IDH2 mutations in gliomas. (PMID 19228619)
- Cited in: IDH2 mutation in gliomas including novel mutation. (PMID 25495392)