R3S (p.Arg3Ser) variant of SYNGAP1 (Q96PV0)
R3S (p.Arg3Ser) 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.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- gnomAD 6-33420273-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available