A1440V (p.Ala1440Val) variant of GRIN2B (Q13224)
A1440V (p.Ala1440Val) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
A1440V (p.Ala1440Val) variant details
- p.Ala1440Val
- rs767037011
- gnomAD 12-13562919-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- MetaLR 0.02
- MetaSVM -1.03
- CADD 19.30
- PolyPhen-2 0.07
- SIFT 0.02
- Population evidence available
- Literature evidence available