L6M (p.Leu6Met) variant of GRIN1 (Q05586)
L6M (p.Leu6Met) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- gnomAD 9-137139502-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.14
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available