Y34* (p.Tyr34Ter) variant of SYNGAP1 (Q96PV0)
Y34* (p.Tyr34Ter) in SYNGAP1 (Q96PV0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
Y34* (p.Tyr34Ter) variant details
- p.Tyr34Ter
- rs147913000
- ESP rs147913000
- ExAC rs147913000
- TOPMed rs147913000
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.803
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available