P17S (p.Pro17Ser) variant of SHANK3 (Q9BYB0)
P17S (p.Pro17Ser) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- gnomAD 22-50674687-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.09
- CADD 22.80
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available