G54V (p.Gly54Val) variant of GRIN1 (Q05586)
G54V (p.Gly54Val) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- gnomAD 9-137139647-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.31
- CADD 21.90
- PolyPhen-2 0.25
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available