E47K (p.Glu47Lys) variant of GJB2 (Gap junction beta-2 protein)
E47K (p.Glu47Lys) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- rs104894398
- ClinGen CA387461835
- ClinVar RCV002474290
- ExAC rs104894398
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 1.00
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available