N1450K (p.Asn1450Lys) variant of GRIN2B (Q13224)
N1450K (p.Asn1450Lys) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
N1450K (p.Asn1450Lys) variant details
- p.Asn1450Lys
- gnomAD 12-13562888-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- MetaLR 0.02
- MetaSVM -0.96
- CADD 23.50
- PolyPhen-2 0.47
- SIFT 0.01
- Population evidence available
- Literature evidence available