R22R (p.Arg22Arg) variant of SYNGAP1 (Q96PV0)
R22R (p.Arg22Arg) in SYNGAP1 (Q96PV0) is a protein-truncating 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.
R22R (p.Arg22Arg) variant details
- p.Arg22Arg
- gnomAD 6-33420330-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available