I64M (p.Ile64Met) variant of SYNGAP1 (Q96PV0)
I64M (p.Ile64Met) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I64M (p.Ile64Met) variant details
- p.Ile64Met
- gnomAD 6-33425800-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- MetaLR 0.01
- MetaSVM -1.03
- CADD 21.60
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available