G45S (p.Gly45Ser) variant of GJB6 (Gap junction beta-6 protein)
G45S (p.Gly45Ser) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G45S (p.Gly45Ser) variant details
- p.Gly45Ser
- ExAC rs756689586
- gnomAD rs756689586
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available