E47K (p.Glu47Lys) variant of GJB6 (Gap junction beta-6 protein)
E47K (p.Glu47Lys) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- cosmic curated COSV53832
- gnomAD rs1869352027
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available