I1448T (p.Ile1448Thr) variant of GRIN2B (Q13224)
I1448T (p.Ile1448Thr) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
I1448T (p.Ile1448Thr) variant details
- p.Ile1448Thr
- rs1482150457
- gnomAD 12-13562895-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- MetaLR 0.03
- MetaSVM -1.14
- CADD 24.40
- PolyPhen-2 0.40
- SIFT 0.03
- Population evidence available
- Literature evidence available