A6T (p.Ala6Thr) variant of SHANK3 (Q9BYB0)
A6T (p.Ala6Thr) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- rs753176574
- gnomAD 22-50674657-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.04
- CADD 17.90
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available