R22G (p.Arg22Gly) variant of SYNGAP1 (Q96PV0)
R22G (p.Arg22Gly) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R22G (p.Arg22Gly) variant details
- p.Arg22Gly
- gnomAD 6-33420328-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 21.40
- PolyPhen-2 0.15
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available