A75G (p.Ala75Gly) variant of GRIN1 (Q05586)
A75G (p.Ala75Gly) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A75G (p.Ala75Gly) variant details
- p.Ala75Gly
- rs1274780996
- gnomAD 9-137139710-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.27
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available