A10T (p.Ala10Thr) variant of GRIN1 (Q05586)
A10T (p.Ala10Thr) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- gnomAD 9-137139514-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.32
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available