R1422Q (p.Arg1422Gln) variant of GRIN2B (Q13224)
R1422Q (p.Arg1422Gln) 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.
R1422Q (p.Arg1422Gln) variant details
- p.Arg1422Gln
- rs75269586
- gnomAD 12-13562973-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- MetaLR 0.04
- MetaSVM -1.12
- CADD 24.20
- PolyPhen-2 0.05
- SIFT 0.03
- Population evidence available
- Literature evidence available