L35H (p.Leu35His) variant of SHANK3 (Q9BYB0)
L35H (p.Leu35His) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L35H (p.Leu35His) variant details
- p.Leu35His
- gnomAD 22-50675103-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.18
- CADD 31.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available