L20W (p.Leu20Trp) variant of GRIN2D (O15399)
L20W (p.Leu20Trp) in GRIN2D (O15399) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L20W (p.Leu20Trp) variant details
- p.Leu20Trp
- gnomAD 19-48398448-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available