S7S (p.Ser7Ser) variant of SYNGAP1 (Q96PV0)
S7S (p.Ser7Ser) 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.
S7S (p.Ser7Ser) variant details
- p.Ser7Ser
- gnomAD 6-33420285-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 12.80
- Population evidence available
- Structural context available
- Literature evidence available