A1417T (p.Ala1417Thr) variant of GRIN2B (Q13224)
A1417T (p.Ala1417Thr) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.
A1417T (p.Ala1417Thr) variant details
- p.Ala1417Thr
- rs866929842
- gnomAD 12-13562989-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- MetaLR 0.02
- MetaSVM -0.98
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Literature evidence available