E170K (p.Glu170Lys) variant of KRT5 (Keratin, type II cytoskeletal 5)
E170K (p.Glu170Lys) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E170K (p.Glu170Lys) variant details
- p.Glu170Lys
- rs59115483
- ClinGen CA216731
- NCI-TCGA Cosmic COSV9935
- ClinVar RCV000056603
- Pathogenic
- not provided; Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.87
- AlphaMissense 0.96
- MetaLR 0.89
- MetaSVM 0.98
- CADD 26.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Epidermolysis bullosa simplex)
- EBI: Pathogenic (in EBS2C, EBS2B and EBS2D)
- UniProt: Pathogenic (in EBS2C, EBS2B and EBS2D)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the… (PMID 11973334)
- Cited in: Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex. (PMID 21144712)