A6S (p.Ala6Ser) variant of SHANK3 (Q9BYB0)
A6S (p.Ala6Ser) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 22-50674657-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.02
- CADD 15.90
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available