D45E (p.Asp45Glu) variant of GRIN2A (Q12879)
D45E (p.Asp45Glu) in GRIN2A (Q12879) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D45E (p.Asp45Glu) variant details
- p.Asp45Glu
- gnomAD rs1432737328
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.13
- CADD 20.00
- PolyPhen-2 0.03
- SIFT 0.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available