Q57* (p.Gln57Ter) variant of GJA1 (Gap junction alpha-1 protein)
Q57* (p.Gln57Ter) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Q57* (p.Gln57Ter) variant details
- p.Gln57Ter
- gnomAD rs1166932620
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 36.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available