N70K (p.Asn70Lys) variant of GRIN1 (Q05586)
N70K (p.Asn70Lys) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N70K (p.Asn70Lys) variant details
- p.Asn70Lys
- rs1338045893
- gnomAD 9-137139696-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.29
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available