R13K (p.Arg13Lys) variant of IDH2 (P48735)
R13K (p.Arg13Lys) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R13K (p.Arg13Lys) variant details
- p.Arg13Lys
- ExAC rs763654597
- TOPMed rs763654597
- gnomAD rs763654597
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.09
- CADD 9.07
- PolyPhen-2 0.07
- SIFT 0.80
- Most common in the REMAINING population (allele frequency 6.2e-05)
- Structural context available