A49V (p.Ala49Val) variant of GRIN1 (Q05586)
A49V (p.Ala49Val) 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.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- gnomAD 9-137139632-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.49
- CADD 19.40
- PolyPhen-2 0.75
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available