M5C (p.Met5Cys) variant of GRIA2 (Glutamate receptor 2)
M5C (p.Met5Cys) in GRIA2 (Glutamate receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
M5C (p.Met5Cys) variant details
- p.Met5Cys
- gnomAD 4-157221052-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available