V46M (p.Val46Met) variant of GRIN1 (Q05586)
V46M (p.Val46Met) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V46M (p.Val46Met) variant details
- p.Val46Met
- rs200747846
- gnomAD 9-137139622-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.71
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available