L21C (p.Leu21Cys) variant of SHANK3 (Q9BYB0)
L21C (p.Leu21Cys) in SHANK3 (Q9BYB0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L21C (p.Leu21Cys) variant details
- p.Leu21Cys
- gnomAD 22-50674691-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available