P17L (p.Pro17Leu) variant of SHANK3 (Q9BYB0)
P17L (p.Pro17Leu) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- gnomAD 22-50674688-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.12
- CADD 24.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available