R5S (p.Arg5Ser) variant of SHANK3 (Q9BYB0)
R5S (p.Arg5Ser) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- gnomAD 22-50674675-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.17
- CADD 24.70
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available