G45D (p.Gly45Asp) variant of IDH1 (O75874)
G45D (p.Gly45Asp) in IDH1 (O75874) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- rs1688068182
- ClinGen CA350102544
- ClinVar RCV004058781
- TOPMed rs1688068182
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 0.93
- MetaLR 0.80
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available