R1422L (p.Arg1422Leu) variant of GRIN2B (Q13224)
R1422L (p.Arg1422Leu) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
R1422L (p.Arg1422Leu) variant details
- p.Arg1422Leu
- rs75269586
- gnomAD 12-13562973-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- MetaLR 0.05
- MetaSVM -1.12
- CADD 24.00
- PolyPhen-2 0.08
- SIFT 0.01
- Population evidence available
- Literature evidence available