S1469R (p.Ser1469Arg) variant of GRIN2B (Q13224)
S1469R (p.Ser1469Arg) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S1469R (p.Ser1469Arg) variant details
- p.Ser1469Arg
- gnomAD 12-13562831-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- MetaLR 0.11
- MetaSVM -1.01
- CADD 26.50
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available