D45N (p.Asp45Asn) variant of GRIN2A (Q12879)
D45N (p.Asp45Asn) in GRIN2A (Q12879) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- rs866582475
- gnomAD rs866582475
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.25
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available