T8M (p.Thr8Met) variant of GRIN1 (Q05586)
T8M (p.Thr8Met) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T8M (p.Thr8Met) variant details
- p.Thr8Met
- rs1324864352
- gnomAD 9-137139509-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.07
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available