S38I (p.Ser38Ile) variant of SHANK3 (Q9BYB0)
S38I (p.Ser38Ile) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S38I (p.Ser38Ile) variant details
- p.Ser38Ile
- gnomAD 22-50675121-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.18
- CADD 29.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available