S10L (p.Ser10Leu) variant of IDH2 (P48735)
S10L (p.Ser10Leu) 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 0.40 / 1. The record also includes population frequency data and structural context.
S10L (p.Ser10Leu) variant details
- p.Ser10Leu
- rs1234438811
- ClinGen CA393803725
- ClinVar RCV002035774
- TOPMed rs1234438811
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.34
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00011)
- Structural context available