T18T (p.Thr18Thr) variant of GJB2 (Gap junction beta-2 protein)
T18T (p.Thr18Thr) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T18T (p.Thr18Thr) variant details
- p.Thr18Thr
- gnomAD 13-20189528-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 10.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available