A30E (p.Ala30Glu) variant of SHANK3 (Q9BYB0)
A30E (p.Ala30Glu) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A30E (p.Ala30Glu) variant details
- p.Ala30Glu
- gnomAD 22-50675073-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.20
- CADD 25.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available