P58A (p.Pro58Ala) variant of SHANK3 (Q9BYB0)
P58A (p.Pro58Ala) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P58A (p.Pro58Ala) variant details
- p.Pro58Ala
- rs1360167928
- gnomAD 22-50675159-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.14
- CADD 16.90
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available