S2I (p.Ser2Ile) variant of SYNGAP1 (Q96PV0)
S2I (p.Ser2Ile) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S2I (p.Ser2Ile) variant details
- p.Ser2Ile
- gnomAD 6-33420269-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available