p.Leu20dup variant of GRIN2D (O15399)
p.Leu20dup in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu20dup variant details
- rs919633142
- gnomAD 19-48398438-A-ATG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 20.30
- Most common in the REMAINING population (allele frequency 0.00034)
- Structural context available
- Literature evidence available