G6A (p.Gly6Ala) variant of GRIN2D (O15399)
G6A (p.Gly6Ala) in GRIN2D (O15399) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G6A (p.Gly6Ala) variant details
- p.Gly6Ala
- gnomAD 19-48398407-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 28.00
- Population evidence available
- Structural context available
- Literature evidence available