R5G (p.Arg5Gly) variant of SHANK3 (Q9BYB0)
R5G (p.Arg5Gly) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- gnomAD 22-50674675-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.15
- CADD 23.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available