A1464P (p.Ala1464Pro) variant of GRIN2B (Q13224)
A1464P (p.Ala1464Pro) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A1464P (p.Ala1464Pro) variant details
- p.Ala1464Pro
- rs1168549804
- gnomAD 12-13562848-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- MetaLR 0.01
- MetaSVM -0.91
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.89
- Population evidence available
- Structural context available
- Literature evidence available