E488K (p.Glu488Lys) variant of KRT2 (P35908)
E488K (p.Glu488Lys) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Ichthyosis bullosa of Siemens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
E488K (p.Glu488Lys) variant details
- p.Glu488Lys
- rs61726452
- ClinGen CA216632
- ClinVar RCV000056534
- ClinVar RCV005007985
- Likely pathogenic
- not provided; Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.95
- MetaLR 0.89
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (not provided; Ichthyosis bullosa of Siemens)
- EBI: Pathogenic (in IBS)
- UniProt: Pathogenic (in IBS)
- Structural context available
- Cited in: A new keratin 2e mutation in ichthyosis bullosa of Siemens. (PMID 9036938)
- Cited in: A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. (PMID 10084318)