R5* (p.Arg5Ter) variant of SYNGAP1 (Q96PV0)
R5* (p.Arg5Ter) in SYNGAP1 (Q96PV0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R5* (p.Arg5Ter) variant details
- p.Arg5Ter
- rs2151121492
- Ensembl rs2151121492
- ClinGen CA363677047
- ClinVar RCV001751832
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 34.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available