A8S (p.Ala8Ser) variant of SHANK3 (Q9BYB0)
A8S (p.Ala8Ser) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 22-50674663-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.01
- CADD 16.50
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available