S52S (p.Ser52Ser) variant of SYNGAP1 (Q96PV0)
S52S (p.Ser52Ser) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S52S (p.Ser52Ser) variant details
- p.Ser52Ser
- gnomAD 6-33423565-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available