I8I (p.Ile8Ile) variant of SYNGAP1 (Q96PV0)
I8I (p.Ile8Ile) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
I8I (p.Ile8Ile) variant details
- p.Ile8Ile
- gnomAD 6-33420288-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 13.10
- Population evidence available
- Structural context available
- Literature evidence available