T30S (p.Thr30Ser) variant of IDH2 (P48735)
T30S (p.Thr30Ser) 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 0.32 / 1. The record also includes population frequency data and structural context.
T30S (p.Thr30Ser) variant details
- p.Thr30Ser
- rs1435460437
- ClinGen CA393803527
- ClinVar RCV002595726
- gnomAD rs1435460437
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.08
- CADD 8.64
- PolyPhen-2 0.00
- SIFT 0.82
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available