A1440S (p.Ala1440Ser) variant of GRIN2B (Q13224)
A1440S (p.Ala1440Ser) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
A1440S (p.Ala1440Ser) variant details
- p.Ala1440Ser
- rs754377600
- gnomAD 12-13562920-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- MetaLR 0.01
- MetaSVM -1.00
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Literature evidence available