A49T (p.Ala49Thr) variant of GRIN1 (Q05586)
A49T (p.Ala49Thr) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- gnomAD 9-137139631-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.61
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available