M34T (p.Met34Thr) variant of GJB6 (Gap junction beta-6 protein)
M34T (p.Met34Thr) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and published literature.
M34T (p.Met34Thr) variant details
- p.Met34Thr
- gnomAD 13-20223380-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- MetaLR 0.94
- MetaSVM 1.16
- CADD 22.80
- PolyPhen-2 0.18
- SIFT 0.33
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available