L21M (p.Leu21Met) variant of SHANK3 (Q9BYB0)
L21M (p.Leu21Met) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L21M (p.Leu21Met) variant details
- p.Leu21Met
- gnomAD 22-50674693-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.07
- CADD 23.70
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available