T56T (p.Thr56Thr) variant of GJA5 (Gap junction alpha-5 protein)
T56T (p.Thr56Thr) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and published literature.
T56T (p.Thr56Thr) variant details
- p.Thr56Thr
- gnomAD 1-147759071-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0934
- CADD 1.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available