S2S (p.Ser2Ser) variant of SYNGAP1 (Q96PV0)
S2S (p.Ser2Ser) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S2S (p.Ser2Ser) variant details
- p.Ser2Ser
- gnomAD 6-33420270-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 15.00
- Population evidence available
- Structural context available
- Literature evidence available