I58T (p.Ile58Thr) variant of GRIN1 (Q05586)
I58T (p.Ile58Thr) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I58T (p.Ile58Thr) variant details
- p.Ile58Thr
- gnomAD 9-137139659-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.32
- CADD 22.20
- PolyPhen-2 0.70
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available