A2G (p.Ala2Gly) variant of IDH2 (P48735)
A2G (p.Ala2Gly) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- rs2505812059
- ClinGen CA393803769
- ClinVar RCV003236024
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.36
- CADD 21.40
- PolyPhen-2 0.05
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available