R5R (p.Arg5Arg) variant of SYNGAP1 (Q96PV0)
R5R (p.Arg5Arg) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- gnomAD 6-33420277-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available