R5C (p.Arg5Cys) variant of SHANK3 (Q9BYB0)
R5C (p.Arg5Cys) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs1336089966
- gnomAD 22-50674675-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.14
- AlphaMissense 0.98
- MetaLR 0.12
- MetaSVM -0.81
- CADD 24.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available