L21P (p.Leu21Pro) variant of SHANK3 (Q9BYB0)
L21P (p.Leu21Pro) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- rs2082904892
- gnomAD 22-50674694-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.19
- CADD 28.30
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available