A15E (p.Ala15Glu) variant of SYNGAP1 (Q96PV0)
A15E (p.Ala15Glu) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A15E (p.Ala15Glu) variant details
- p.Ala15Glu
- gnomAD 6-33420308-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 16.30
- PolyPhen-2 0.04
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available