A6G (p.Ala6Gly) variant of SHANK3 (Q9BYB0)
A6G (p.Ala6Gly) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A6G (p.Ala6Gly) variant details
- p.Ala6Gly
- gnomAD 22-50674658-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.03
- CADD 17.10
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available