M34* (p.Met34Ter) variant of GJB2 (Gap junction beta-2 protein)
M34* (p.Met34Ter) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
M34* (p.Met34Ter) variant details
- p.Met34Ter
- rs1566528961
- gnomAD 13-20189482-TA-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 21.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available