A49G (p.Ala49Gly) variant of GRIN1 (Q05586)
A49G (p.Ala49Gly) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A49G (p.Ala49Gly) variant details
- p.Ala49Gly
- rs756747799
- gnomAD 9-137139632-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.70
- CADD 23.60
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available