p.Ile1446dup variant of GRIN2B (Q13224)
p.Ile1446dup in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
p.Ile1446dup variant details
- rs1310969670
- gnomAD 12-13562899-A-AGA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 18.70
- Population evidence available
- Literature evidence available