L35F (p.Leu35Phe) variant of SHANK3 (Q9BYB0)
L35F (p.Leu35Phe) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L35F (p.Leu35Phe) variant details
- p.Leu35Phe
- gnomAD 22-50675102-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.13
- CADD 27.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available