S31I (p.Ser31Ile) variant of GRIN2B (Q13224)
S31I (p.Ser31Ile) in GRIN2B (Q13224) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S31I (p.Ser31Ile) variant details
- p.Ser31Ile
- rs1947653509
- gnomAD 12-13437985-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 17.50
- Population evidence available
- Structural context available
- Literature evidence available