E68K (p.Glu68Lys) variant of IDH2 (P48735)
E68K (p.Glu68Lys) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- cosmic curated COSV10463
- TOPMed rs1209495241
- gnomAD rs1209495241
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.66
- CADD 23.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available