R54G (p.Arg54Gly) variant of SHANK3 (Q9BYB0)
R54G (p.Arg54Gly) in SHANK3 (Q9BYB0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- gnomAD 22-50675162-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available