V46L (p.Val46Leu) variant of GRIN1 (Q05586)
V46L (p.Val46Leu) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V46L (p.Val46Leu) variant details
- p.Val46Leu
- gnomAD 9-137139622-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.55
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available