G12S (p.Gly12Ser) variant of GJB6 (Gap junction beta-6 protein)
G12S (p.Gly12Ser) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- gnomAD 13-20223447-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- MetaLR 0.97
- MetaSVM 1.10
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available