G11E (p.Gly11Glu) variant of SYNGAP1 (Q96PV0)
G11E (p.Gly11Glu) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G11E (p.Gly11Glu) variant details
- p.Gly11Glu
- TOPMed rs1353319729
- gnomAD rs1353319729
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available