W16* (p.Trp16Ter) variant of CNTNAP2 (Q9UHC6)
W16* (p.Trp16Ter) in CNTNAP2 (Q9UHC6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
W16* (p.Trp16Ter) variant details
- p.Trp16Ter
- gnomAD 7-146116923-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available