L7W (p.Leu7Trp) variant of GJA5 (Gap junction alpha-5 protein)
L7W (p.Leu7Trp) in GJA5 (Gap junction alpha-5 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
L7W (p.Leu7Trp) variant details
- p.Leu7Trp
- gnomAD 1-147759219-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 24.30
- Population evidence available
- Literature evidence available