A8T (p.Ala8Thr) variant of SHANK3 (Q9BYB0)
A8T (p.Ala8Thr) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- gnomAD 22-50674663-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.02
- CADD 15.50
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available