E487K (p.Glu487Lys) variant of KRT2 (P35908)
E487K (p.Glu487Lys) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Ichthyosis bullosa of Siemens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E487K (p.Glu487Lys) variant details
- p.Glu487Lys
- rs137852629
- ClinGen CA120291
- NCI-TCGA Cosmic COSV5901
- ClinVar RCV000009894
- Pathogenic
- not provided; Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.95
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Ichthyosis bullosa of Siemens)
- EBI: Pathogenic (in IBS)
- UniProt: Pathogenic (in IBS)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the… (PMID 10233323)
- Cited in: Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. (PMID 15949009)