S38S (p.Ser38Ser) variant of SHANK3 (Q9BYB0)
S38S (p.Ser38Ser) in SHANK3 (Q9BYB0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S38S (p.Ser38Ser) variant details
- p.Ser38Ser
- rs1339959251
- gnomAD 22-50675122-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 15.00
- Population evidence available
- Structural context available
- Literature evidence available