R132C (p.Arg132Cys) variant of IDH1 (O75874)
R132C (p.Arg132Cys) in IDH1 (O75874) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Maffucci syndrome; Acute myeloid leukemia; Enchondromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R132C (p.Arg132Cys) variant details
- p.Arg132Cys
- rs121913499
- ClinGen CA16602374
- cosmic curated COSV61615
- ClinVar RCV000445302
- Pathogenic/Likely pathogenic
- Maffucci syndrome; Acute myeloid leukemia; Enchondromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.81
- CADD 31.00
- PolyPhen-2 0.10
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Maffucci syndrome; Acute myeloid leukemia; Enchondromatosis)
- EBI: Pathogenic (in colorectal cancer and glioma samples)
- UniProt: Pathogenic (in colorectal cancer and glioma samples)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)
- Cited in: IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (PMID 19117336)