P35Q (p.Pro35Gln) variant of IDH2 (P48735)
P35Q (p.Pro35Gln) 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 0.25 / 1. The record also includes population frequency data and structural context.
P35Q (p.Pro35Gln) variant details
- p.Pro35Gln
- rs886385060
- ClinGen CA393803463
- ClinVar RCV003513937
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.13
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.90
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.1e-05)
- Structural context available