C1447Y (p.Cys1447Tyr) variant of GRIN2B (Q13224)
C1447Y (p.Cys1447Tyr) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
C1447Y (p.Cys1447Tyr) variant details
- p.Cys1447Tyr
- rs749417978
- gnomAD 12-13562898-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- MetaLR 0.02
- MetaSVM -1.04
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Literature evidence available