S1482Y (p.Ser1482Tyr) variant of GRIN2B (Q13224)
S1482Y (p.Ser1482Tyr) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
S1482Y (p.Ser1482Tyr) variant details
- p.Ser1482Tyr
- gnomAD 12-13562793-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- MetaLR 0.18
- MetaSVM -0.82
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available