S38T (p.Ser38Thr) variant of SHANK3 (Q9BYB0)
S38T (p.Ser38Thr) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S38T (p.Ser38Thr) variant details
- p.Ser38Thr
- gnomAD 22-50675121-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.15
- CADD 26.80
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available