A30R (p.Ala30Arg) variant of SHANK3 (Q9BYB0)
A30R (p.Ala30Arg) in SHANK3 (Q9BYB0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A30R (p.Ala30Arg) variant details
- p.Ala30Arg
- gnomAD 22-50675071-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available