K1444E (p.Lys1444Glu) variant of GRIN2B (Q13224)
K1444E (p.Lys1444Glu) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
K1444E (p.Lys1444Glu) variant details
- p.Lys1444Glu
- rs768707460
- gnomAD 12-13562908-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- MetaLR 0.04
- MetaSVM -1.08
- CADD 23.20
- PolyPhen-2 0.25
- SIFT 0.00
- Population evidence available
- Literature evidence available