W4* (p.Trp4Ter) variant of GJA1 (Gap junction alpha-1 protein)
W4* (p.Trp4Ter) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
W4* (p.Trp4Ter) variant details
- p.Trp4Ter
- gnomAD 6-121446858-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available