R18W (p.Arg18Trp) variant of IDH2 (P48735)
R18W (p.Arg18Trp) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R18W (p.Arg18Trp) variant details
- p.Arg18Trp
- ExAC rs769572350
- gnomAD rs769572350
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.22
- CADD 20.90
- PolyPhen-2 0.13
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available