L35I (p.Leu35Ile) variant of SHANK3 (Q9BYB0)
L35I (p.Leu35Ile) 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.
L35I (p.Leu35Ile) variant details
- p.Leu35Ile
- gnomAD 22-50675102-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.06
- CADD 24.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available