A39T (p.Ala39Thr) variant of SHANK3 (Q9BYB0)
A39T (p.Ala39Thr) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- gnomAD 22-50675087-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.07
- CADD 25.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available