I13M (p.Ile13Met) variant of SYNGAP1 (Q96PV0)
I13M (p.Ile13Met) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
I13M (p.Ile13Met) variant details
- p.Ile13Met
- gnomAD 6-33420303-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 20.30
- PolyPhen-2 0.02
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available