G8A (p.Gly8Ala) variant of CNTNAP2 (Q9UHC6)
G8A (p.Gly8Ala) in CNTNAP2 (Q9UHC6) is a protein-truncating 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.
G8A (p.Gly8Ala) variant details
- p.Gly8Ala
- gnomAD 7-146116897-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 26.10
- Population evidence available
- Structural context available
- Literature evidence available