N1470K (p.Asn1470Lys) variant of GRIN2B (Q13224)
N1470K (p.Asn1470Lys) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
N1470K (p.Asn1470Lys) variant details
- p.Asn1470Lys
- gnomAD 12-13562828-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- MetaLR 0.09
- MetaSVM -1.09
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available