V79C (p.Val79Cys) variant of GJA5 (Gap junction alpha-5 protein)
V79C (p.Val79Cys) in GJA5 (Gap junction alpha-5 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
V79C (p.Val79Cys) variant details
- p.Val79Cys
- rs1553227061
- gnomAD 1-147759003-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 29.60
- Population evidence available
- Literature evidence available