E147K (p.Glu147Lys) variant of GJB2 (Gap junction beta-2 protein)
E147K (p.Glu147Lys) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Palmoplantar keratoderma-deafness syndrome; Autosomal dominant nonsyndromic hear. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
E147K (p.Glu147Lys) variant details
- p.Glu147Lys
- rs767178508
- ClinGen CA6904269
- ClinVar RCV000409580
- ClinVar RCV000411084
- Pathogenic
- Palmoplantar keratoderma-deafness syndrome; Autosomal dominant nonsyndromic hear
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.94
- MetaLR 0.97
- MetaSVM 1.07
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Palmoplantar keratoderma-deafness syndrome; Autosomal dominant n)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)