A43T (p.Ala43Thr) variant of SHANK3 (Q9BYB0)
A43T (p.Ala43Thr) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- gnomAD 22-50675108-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.03
- CADD 20.60
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available