S2del (p.Ser2del) variant of SYNGAP1 (Q96PV0)
S2del (p.Ser2del) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S2del (p.Ser2del) variant details
- gnomAD 6-33420267-GAGC-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 18.30
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available
- Literature evidence available