R37S (p.Arg37Ser) variant of SHANK3 (Q9BYB0)
R37S (p.Arg37Ser) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R37S (p.Arg37Ser) variant details
- p.Arg37Ser
- gnomAD 22-50675057-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.23
- CADD 28.60
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available