Y34Y (p.Tyr34Tyr) variant of SYNGAP1 (Q96PV0)
Y34Y (p.Tyr34Tyr) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y34Y (p.Tyr34Tyr) variant details
- p.Tyr34Tyr
- rs147913000
- gnomAD 6-33423511-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 7.49
- Most common in the African/African-American population (allele frequency 0.0011)
- Structural context available
- Literature evidence available