P31T (p.Pro31Thr) variant of SHANK3 (Q9BYB0)
P31T (p.Pro31Thr) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P31T (p.Pro31Thr) variant details
- p.Pro31Thr
- gnomAD 22-50675075-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.07
- CADD 17.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available