S1468C (p.Ser1468Cys) variant of GRIN2B (Q13224)
S1468C (p.Ser1468Cys) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S1468C (p.Ser1468Cys) variant details
- p.Ser1468Cys
- gnomAD 12-13562835-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- MetaLR 0.02
- MetaSVM -1.02
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available