G12A (p.Gly12Ala) variant of GRIN2D (O15399)
G12A (p.Gly12Ala) in GRIN2D (O15399) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- gnomAD 19-48398423-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 25.70
- Most common in the Ashkenazi Jewish population (allele frequency 0.0001)
- Structural context available
- Literature evidence available