I72I (p.Ile72Ile) variant of GJA1 (Gap junction alpha-1 protein)
I72I (p.Ile72Ile) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I72I (p.Ile72Ile) variant details
- p.Ile72Ile
- rs575737793
- gnomAD 6-121447063-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 11.50
- Most common in the 1KG:ITU population (allele frequency 0.015)
- Structural context available
- Literature evidence available