R5R (p.Arg5Arg) variant of SHANK3 (Q9BYB0)
R5R (p.Arg5Arg) in SHANK3 (Q9BYB0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- gnomAD 22-50674677-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available