N1427K (p.Asn1427Lys) variant of GRIN2B (Q13224)
N1427K (p.Asn1427Lys) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
N1427K (p.Asn1427Lys) variant details
- p.Asn1427Lys
- rs1214699233
- gnomAD 12-13562957-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- MetaLR 0.01
- MetaSVM -1.05
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.09
- Population evidence available
- Literature evidence available