A1417S (p.Ala1417Ser) variant of GRIN2B (Q13224)
A1417S (p.Ala1417Ser) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.
A1417S (p.Ala1417Ser) variant details
- p.Ala1417Ser
- rs866929842
- gnomAD 12-13562989-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- MetaLR 0.01
- MetaSVM -0.95
- CADD 18.60
- SIFT 0.36
- Population evidence available
- Literature evidence available