I83I (p.Ile83Ile) variant of GJA1 (Gap junction alpha-1 protein)
I83I (p.Ile83Ile) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I83I (p.Ile83Ile) variant details
- p.Ile83Ile
- gnomAD 6-121447096-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 9.95
- Population evidence available
- Structural context available
- Literature evidence available