P58Q (p.Pro58Gln) variant of SHANK3 (Q9BYB0)
P58Q (p.Pro58Gln) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P58Q (p.Pro58Gln) variant details
- p.Pro58Gln
- gnomAD 22-50675157-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.24
- CADD 26.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available