R37H (p.Arg37His) variant of SHANK3 (Q9BYB0)
R37H (p.Arg37His) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R37H (p.Arg37His) variant details
- p.Arg37His
- gnomAD 22-50675058-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.19
- CADD 32.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available