D23E (p.Asp23Glu) variant of SYNGAP1 (Q96PV0)
D23E (p.Asp23Glu) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D23E (p.Asp23Glu) variant details
- p.Asp23Glu
- gnomAD 6-33423478-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 23.50
- PolyPhen-2 0.42
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available