I8L (p.Ile8Leu) variant of SYNGAP1 (Q96PV0)
I8L (p.Ile8Leu) in SYNGAP1 (Q96PV0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I8L (p.Ile8Leu) variant details
- p.Ile8Leu
- gnomAD 6-33420278-G-GAGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 25.80
- Population evidence available
- Structural context available
- Literature evidence available