L57L (p.Leu57Leu) variant of SYNGAP1 (Q96PV0)
L57L (p.Leu57Leu) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L57L (p.Leu57Leu) variant details
- p.Leu57Leu
- gnomAD 6-33423580-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 0.07
- MetaLR 0.00
- MetaSVM -0.92
- CADD 11.00
- PolyPhen-2 0.01
- SIFT 0.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available