A20T (p.Ala20Thr) variant of GRIN1 (Q05586)
A20T (p.Ala20Thr) 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.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- rs770981821
- gnomAD 9-137139544-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.20
- CADD 20.60
- PolyPhen-2 0.17
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available