A30T (p.Ala30Thr) variant of SHANK3 (Q9BYB0)
A30T (p.Ala30Thr) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD 22-50675072-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.19
- CADD 24.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available