K1428R (p.Lys1428Arg) variant of GRIN2B (Q13224)
K1428R (p.Lys1428Arg) 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.
K1428R (p.Lys1428Arg) variant details
- p.Lys1428Arg
- rs774504887
- gnomAD 12-13562955-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- MetaLR 0.01
- MetaSVM -1.02
- CADD 23.00
- PolyPhen-2 0.24
- SIFT 0.23
- Population evidence available
- Literature evidence available