P31S (p.Pro31Ser) variant of SHANK3 (Q9BYB0)
P31S (p.Pro31Ser) 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.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- gnomAD 22-50675075-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.05
- CADD 22.60
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available