P17Q (p.Pro17Gln) variant of SHANK3 (Q9BYB0)
P17Q (p.Pro17Gln) 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.
P17Q (p.Pro17Gln) variant details
- p.Pro17Gln
- gnomAD 22-50674688-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.12
- CADD 23.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available