I82I (p.Ile82Ile) variant of GJA5 (Gap junction alpha-5 protein)
I82I (p.Ile82Ile) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
I82I (p.Ile82Ile) variant details
- p.Ile82Ile
- rs1380122320
- gnomAD 1-147758993-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 12.10
- Population evidence available
- Literature evidence available