T18T (p.Thr18Thr) variant of GJB1 (Gap junction beta-1 protein)
T18T (p.Thr18Thr) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
T18T (p.Thr18Thr) variant details
- p.Thr18Thr
- gnomAD X-71223761-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.106
- CADD 3.62
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available