S1469N (p.Ser1469Asn) variant of GRIN2B (Q13224)
S1469N (p.Ser1469Asn) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S1469N (p.Ser1469Asn) variant details
- p.Ser1469Asn
- rs202133231
- gnomAD 12-13562832-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- MetaLR 0.05
- MetaSVM -1.11
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available