R37G (p.Arg37Gly) variant of SHANK3 (Q9BYB0)
R37G (p.Arg37Gly) 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.
R37G (p.Arg37Gly) variant details
- p.Arg37Gly
- gnomAD 22-50675096-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.21
- CADD 29.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available