L21L (p.Leu21Leu) variant of SHANK3 (Q9BYB0)
L21L (p.Leu21Leu) in SHANK3 (Q9BYB0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L21L (p.Leu21Leu) variant details
- p.Leu21Leu
- rs1270970104
- gnomAD 22-50674693-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available