S12L (p.Ser12Leu) variant of GRIA2 (Glutamate receptor 2)
S12L (p.Ser12Leu) in GRIA2 (Glutamate receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S12L (p.Ser12Leu) variant details
- p.Ser12Leu
- gnomAD 4-157221073-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available