R54W (p.Arg54Trp) variant of SHANK3 (Q9BYB0)
R54W (p.Arg54Trp) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R54W (p.Arg54Trp) variant details
- p.Arg54Trp
- gnomAD 22-50675165-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.15
- CADD 25.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available