E61E (p.Glu61Glu) variant of SYNGAP1 (Q96PV0)
E61E (p.Glu61Glu) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E61E (p.Glu61Glu) variant details
- p.Glu61Glu
- rs1306765920
- gnomAD 6-33423592-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 10.10
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available