A18G (p.Ala18Gly) variant of GRIN1 (Q05586)
A18G (p.Ala18Gly) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- rs1478687903
- gnomAD 9-137139539-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.19
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available