A1464V (p.Ala1464Val) variant of GRIN2B (Q13224)
A1464V (p.Ala1464Val) 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.
A1464V (p.Ala1464Val) variant details
- p.Ala1464Val
- gnomAD 12-13562847-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- MetaLR 0.01
- MetaSVM -0.91
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available