A14L (p.Ala14Leu) variant of GRIN2D (O15399)
A14L (p.Ala14Leu) 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.
A14L (p.Ala14Leu) variant details
- p.Ala14Leu
- gnomAD 19-48398427-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available