A11Q (p.Ala11Gln) variant of CNTNAP2 (Q9UHC6)
A11Q (p.Ala11Gln) in CNTNAP2 (Q9UHC6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A11Q (p.Ala11Gln) variant details
- p.Ala11Gln
- gnomAD 7-146116903-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available