R13I (p.Arg13Ile) variant of IDH2 (P48735)
R13I (p.Arg13Ile) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R13I (p.Arg13Ile) variant details
- p.Arg13Ile
- ExAC rs763654597
- TOPMed rs763654597
- gnomAD rs763654597
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.22
- CADD 15.00
- PolyPhen-2 0.02
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 8.4e-05)
- Structural context available