S28S (p.Ser28Ser) variant of SYNGAP1 (Q96PV0)
S28S (p.Ser28Ser) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- rs142359891
- gnomAD 6-33423493-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.31
- CADD 13.40
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Cited in: ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. (PMID 18414213)