A28V (p.Ala28Val) variant of IDH2 (P48735)
A28V (p.Ala28Val) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- TOPMed rs1317679019
- gnomAD rs1317679019
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.09
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 3.1e-06)
- Structural context available