P17T (p.Pro17Thr) variant of SHANK3 (Q9BYB0)
P17T (p.Pro17Thr) 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.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- gnomAD 22-50674687-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.09
- CADD 23.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available