E476K (p.Glu476Lys) variant of KRT2 (P35908)
E476K (p.Glu476Lys) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ichthyosis bullosa of Siemens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
E476K (p.Glu476Lys) variant details
- p.Glu476Lys
- rs56829062
- ClinGen CA120295
- ClinVar RCV000009899
- ClinVar RCV000056527
- Pathogenic
- Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Ichthyosis bullosa of Siemens)
- EBI: Pathogenic (in IBS)
- UniProt: Pathogenic (in IBS)
- Structural context available
- Cited in: Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in… (PMID 9804344)
- Cited in: A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. (PMID 10084318)