D1420G (p.Asp1420Gly) variant of GRIN2B (Q13224)
D1420G (p.Asp1420Gly) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
D1420G (p.Asp1420Gly) variant details
- p.Asp1420Gly
- gnomAD 12-13562979-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- MetaLR 0.06
- MetaSVM -1.16
- CADD 27.00
- PolyPhen-2 0.70
- SIFT 0.01
- Population evidence available
- Literature evidence available