R37L (p.Arg37Leu) variant of SHANK3 (Q9BYB0)
R37L (p.Arg37Leu) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R37L (p.Arg37Leu) variant details
- p.Arg37Leu
- rs1306021312
- gnomAD 22-50675058-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.20
- CADD 32.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available