E487D (p.Glu487Asp) variant of KRT2 (P35908)
E487D (p.Glu487Asp) 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 0.93 / 1. The record also includes published literature and structural context.
E487D (p.Glu487Asp) variant details
- p.Glu487Asp
- rs137852628
- ClinGen CA120290
- ClinVar RCV000009893
- ClinVar RCV000056533
- Pathogenic
- Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.95
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Ichthyosis bullosa of Siemens)
- EBI: Pathogenic (in IBS)
- UniProt: Pathogenic (in IBS)
- Structural context available
- Cited in: Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation. (PMID 1380918)
- Cited in: Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. (PMID 7524919)