Y17* (p.Tyr17Ter) variant of GJA1 (Gap junction alpha-1 protein)
Y17* (p.Tyr17Ter) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Y17* (p.Tyr17Ter) variant details
- p.Tyr17Ter
- ExAC rs766059886
- gnomAD rs766059886
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available