R5H (p.Arg5His) variant of SHANK3 (Q9BYB0)
R5H (p.Arg5His) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- gnomAD 22-50674676-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.19
- CADD 26.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available