L18A (p.Leu18Ala) variant of GRIN2D (O15399)
L18A (p.Leu18Ala) in GRIN2D (O15399) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L18A (p.Leu18Ala) variant details
- p.Leu18Ala
- gnomAD 19-48398443-GCT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 26.30
- Population evidence available
- Structural context available
- Literature evidence available