C12G (p.Cys12Gly) variant of IDH2 (P48735)
C12G (p.Cys12Gly) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
C12G (p.Cys12Gly) variant details
- p.Cys12Gly
- TOPMed rs1338052183
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.14
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 3.9e-05)
- Structural context available