G54S (p.Gly54Ser) variant of GRIN1 (Q05586)
G54S (p.Gly54Ser) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- gnomAD 9-137139646-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.16
- CADD 22.40
- PolyPhen-2 0.47
- SIFT 0.87
- Population evidence available
- Structural context available
- Literature evidence available