N47Y (p.Asn47Tyr) variant of GRIN1 (Q05586)
N47Y (p.Asn47Tyr) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
N47Y (p.Asn47Tyr) variant details
- p.Asn47Tyr
- rs1347150317
- gnomAD 9-137139625-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.18
- CADD 25.00
- PolyPhen-2 0.78
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available