S4R (p.Ser4Arg) variant of SHANK3 (Q9BYB0)
S4R (p.Ser4Arg) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- gnomAD 22-50674660-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.05
- CADD 23.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available