P57H (p.Pro57His) variant of GRIA1 (Glutamate receptor 1)
P57H (p.Pro57His) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P57H (p.Pro57His) variant details
- p.Pro57His
- gnomAD 5-153494015-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.61
- MetaLR 0.71
- MetaSVM 0.52
- CADD 23.80
- PolyPhen-2 0.39
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available