E63E (p.Glu63Glu) variant of SYNGAP1 (Q96PV0)
E63E (p.Glu63Glu) in SYNGAP1 (Q96PV0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E63E (p.Glu63Glu) variant details
- p.Glu63Glu
- gnomAD 6-33423598-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available