A6P (p.Ala6Pro) variant of SHANK3 (Q9BYB0)
A6P (p.Ala6Pro) in SHANK3 (Q9BYB0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- rs1373216541
- gnomAD 22-50674649-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available