V84E (p.Val84Glu) variant of SHANK3 (Q9BYB0)
V84E (p.Val84Glu) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V84E (p.Val84Glu) variant details
- p.Val84Glu
- gnomAD 22-50675100-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.19
- CADD 28.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available