A30S (p.Ala30Ser) variant of SHANK3 (Q9BYB0)
A30S (p.Ala30Ser) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 22-50675072-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.09
- CADD 23.30
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available