A25V (p.Ala25Val) variant of IDH2 (P48735)
A25V (p.Ala25Val) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- cosmic curated COSV10521
- TOPMed rs1371083762
- gnomAD rs1371083762
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.08
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Latino/Admixed American population (allele frequency 4.4e-05)
- Structural context available