T8K (p.Thr8Lys) variant of GRIN1 (Q05586)
T8K (p.Thr8Lys) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T8K (p.Thr8Lys) variant details
- p.Thr8Lys
- rs1324864352
- gnomAD 9-137139509-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available