R3G (p.Arg3Gly) variant of SYNGAP1 (Q96PV0)
R3G (p.Arg3Gly) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- gnomAD 6-33420271-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available