G5D (p.Gly5Asp) variant of GRIN2A (Q12879)
G5D (p.Gly5Asp) in GRIN2A (Q12879) 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 0.42 / 1. The record also includes population frequency data and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- cosmic curated COSV10522
- TOPMed rs1160964676
- gnomAD rs1160964676
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.44
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available