L35P (p.Leu35Pro) variant of SHANK3 (Q9BYB0)
L35P (p.Leu35Pro) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L35P (p.Leu35Pro) variant details
- p.Leu35Pro
- gnomAD 22-50675103-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.43
- CADD 32.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available