L56L (p.Leu56Leu) variant of SYNGAP1 (Q96PV0)
L56L (p.Leu56Leu) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L56L (p.Leu56Leu) variant details
- p.Leu56Leu
- rs756521441
- gnomAD 6-33423575-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 12.60
- Population evidence available
- Structural context available
- Literature evidence available