R60C (p.Arg60Cys) variant of IDH2 (P48735)
R60C (p.Arg60Cys) in IDH2 (P48735) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R60C (p.Arg60Cys) variant details
- p.Arg60Cys
- NCI-TCGA Cosmic COSV5747
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57482
- Ensembl rs1596076730
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.88
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available