H1472Q (p.His1472Gln) variant of GRIN2B (Q13224)
H1472Q (p.His1472Gln) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H1472Q (p.His1472Gln) variant details
- p.His1472Gln
- gnomAD 12-13562822-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- MetaLR 0.05
- MetaSVM -1.16
- CADD 24.70
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available