R6W (p.Arg6Trp) variant of IDH2 (P48735)
R6W (p.Arg6Trp) in IDH2 (P48735) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- 1000Genomes rs549177872
- ExAC rs549177872
- TOPMed rs549177872
- gnomAD rs549177872
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.48
- CADD 24.80
- PolyPhen-2 0.18
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available