G3R (p.Gly3Arg) variant of GRIN2D (O15399)
G3R (p.Gly3Arg) in GRIN2D (O15399) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- 1000Genomes rs908012919
- TOPMed rs908012919
- gnomAD rs908012919
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.33
- CADD 19.40
- PolyPhen-2 0.33
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available