A1423T (p.Ala1423Thr) variant of GRIN2B (Q13224)
A1423T (p.Ala1423Thr) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and published literature.
A1423T (p.Ala1423Thr) variant details
- p.Ala1423Thr
- gnomAD 12-13562971-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- MetaLR 0.01
- MetaSVM -0.93
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Literature evidence available