S12S (p.Ser12Ser) variant of SYNGAP1 (Q96PV0)
S12S (p.Ser12Ser) 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.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- rs1362587238
- gnomAD 6-33420300-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 14.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available