L22P (p.Leu22Pro) variant of GRIN2D (O15399)
L22P (p.Leu22Pro) in GRIN2D (O15399) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- gnomAD 19-48398456-CTGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 25.80
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available