T5T (p.Thr5Thr) variant of GJB2 (Gap junction beta-2 protein)
T5T (p.Thr5Thr) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T5T (p.Thr5Thr) variant details
- p.Thr5Thr
- rs757226502
- gnomAD 13-20189567-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0808
- CADD 0.02
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available