A71T (p.Ala71Thr) variant of GRIN1 (Q05586)
A71T (p.Ala71Thr) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A71T (p.Ala71Thr) variant details
- p.Ala71Thr
- rs754711981
- gnomAD 9-137139697-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.60
- CADD 29.60
- PolyPhen-2 0.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available