p.Ala23 Leu45del variant of GRIN2D (O15399)
p.Ala23 Leu45del in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala23 Leu45del variant details
- gnomAD 19-48398455-GCTGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 19.60
- Most common in the South Asian population (allele frequency 5.3e-05)
- Structural context available
- Literature evidence available