P31L (p.Pro31Leu) variant of SHANK3 (Q9BYB0)
P31L (p.Pro31Leu) 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.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- gnomAD 22-50675076-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.11
- CADD 26.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available