V84L (p.Val84Leu) variant of SHANK3 (Q9BYB0)
V84L (p.Val84Leu) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V84L (p.Val84Leu) variant details
- p.Val84Leu
- rs762621811
- gnomAD 22-50675099-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.08
- CADD 23.60
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available