P17A (p.Pro17Ala) variant of SHANK3 (Q9BYB0)
P17A (p.Pro17Ala) 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.
P17A (p.Pro17Ala) variant details
- p.Pro17Ala
- gnomAD 22-50674687-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.08
- CADD 23.50
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available