T5T (p.Thr5Thr) variant of GJB6 (Gap junction beta-6 protein)
T5T (p.Thr5Thr) in GJB6 (Gap junction beta-6 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.
T5T (p.Thr5Thr) variant details
- p.Thr5Thr
- rs150075979
- gnomAD 13-20223466-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0867
- CADD 0.85
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Literature evidence available