T18L (p.Thr18Leu) variant of GJB2 (Gap junction beta-2 protein)
T18L (p.Thr18Leu) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T18L (p.Thr18Leu) variant details
- p.Thr18Leu
- gnomAD 13-20189524-TGCTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 32.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available