I83L (p.Ile83Leu) variant of GRIN1 (Q05586)
I83L (p.Ile83Leu) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I83L (p.Ile83Leu) variant details
- p.Ile83Leu
- gnomAD 9-137139733-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.13
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available