S12A (p.Ser12Ala) variant of SYNGAP1 (Q96PV0)
S12A (p.Ser12Ala) in SYNGAP1 (Q96PV0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S12A (p.Ser12Ala) variant details
- p.Ser12Ala
- gnomAD 6-33420292-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available