R54C (p.Arg54Cys) variant of SHANK3 (Q9BYB0)
R54C (p.Arg54Cys) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R54C (p.Arg54Cys) variant details
- p.Arg54Cys
- rs2082909851
- gnomAD 22-50675171-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.16
- CADD 23.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available