Y18* (p.Tyr18Ter) variant of SYNGAP1 (Q96PV0)
Y18* (p.Tyr18Ter) in SYNGAP1 (Q96PV0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Y18* (p.Tyr18Ter) variant details
- p.Tyr18Ter
- Ensembl rs2151121654
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 35.00
- Population evidence available
- Structural context available