V84M (p.Val84Met) variant of SHANK3 (Q9BYB0)
V84M (p.Val84Met) 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.
V84M (p.Val84Met) variant details
- p.Val84Met
- rs762621811
- gnomAD 22-50675099-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.08
- CADD 26.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available