I29T (p.Ile29Thr) variant of GRIN1 (Q05586)
I29T (p.Ile29Thr) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
I29T (p.Ile29Thr) variant details
- p.Ile29Thr
- gnomAD 9-137139572-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.23
- CADD 23.90
- PolyPhen-2 0.85
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available