E80K (p.Glu80Lys) variant of GRIN1 (Q05586)
E80K (p.Glu80Lys) 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.
E80K (p.Glu80Lys) variant details
- p.Glu80Lys
- rs748041860
- gnomAD 9-137139724-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.18
- CADD 23.40
- PolyPhen-2 0.19
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available