R54R (p.Arg54Arg) variant of SHANK3 (Q9BYB0)
R54R (p.Arg54Arg) in SHANK3 (Q9BYB0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R54R (p.Arg54Arg) variant details
- p.Arg54Arg
- gnomAD 22-50675165-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 12.90
- Population evidence available
- Structural context available
- Literature evidence available