I98T (p.Ile98Thr) variant of IDH2 (P48735)
I98T (p.Ile98Thr) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of D-2-hydroxyglutaric aciduria 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I98T (p.Ile98Thr) variant details
- p.Ile98Thr
- rs139512088
- ClinGen CA7733230
- cosmic curated COSV10588
- ClinVar RCV001038725
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.34
- CADD 24.50
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available