D50G (p.Asp50Gly) variant of GJB6 (Gap junction beta-6 protein)
D50G (p.Asp50Gly) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D50G (p.Asp50Gly) variant details
- p.Asp50Gly
- Ensembl rs536922608
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 22.80
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available