R132H (p.Arg132His) variant of IDH1 (O75874)
R132H (p.Arg132His) in IDH1 (O75874) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Metaphyseal chondromatosis; Metaphyseal chondromatosis with D-2-hydroxyglutaric. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R132H (p.Arg132His) variant details
- p.Arg132His
- rs121913500
- cosmic curated COSV61633
- ClinGen CA170874
- cosmic curated COSV61615
- Pathogenic/Likely pathogenic
- Metaphyseal chondromatosis; Metaphyseal chondromatosis with D-2-hydroxyglutaric
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.85
- AlphaMissense 0.99
- MetaLR 0.78
- MetaSVM 0.59
- CADD 24.40
- PolyPhen-2 0.13
- ClinVar: Pathogenic/Likely pathogenic (Metaphyseal chondromatosis; Metaphyseal chondromatosis with D-2-)
- EBI: Pathogenic (in a glioma sample)
- UniProt: Pathogenic (in a glioma sample)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: An integrated genomic analysis of human glioblastoma multiforme. (PMID 18772396)
- Cited in: Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. (PMID 19935646)