R22S (p.Arg22Ser) variant of SYNGAP1 (Q96PV0)
R22S (p.Arg22Ser) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R22S (p.Arg22Ser) variant details
- p.Arg22Ser
- gnomAD 6-33420330-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 23.70
- PolyPhen-2 0.23
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available