E12Q (p.Glu12Gln) variant of IDH1 (O75874)
E12Q (p.Glu12Gln) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E12Q (p.Glu12Gln) variant details
- p.Glu12Gln
- gnomAD rs1248893111
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.70
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available