R37C (p.Arg37Cys) variant of SHANK3 (Q9BYB0)
R37C (p.Arg37Cys) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R37C (p.Arg37Cys) variant details
- p.Arg37Cys
- gnomAD 22-50675057-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.27
- CADD 32.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available