Q41E (p.Gln41Glu) variant of GJB6 (Gap junction beta-6 protein)
Q41E (p.Gln41Glu) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q41E (p.Gln41Glu) variant details
- p.Gln41Glu
- Ensembl rs1869354077
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 9.87
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available