I161S (p.Ile161Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
I161S (p.Ile161Ser) 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 1C, localized. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I161S (p.Ile161Ser) variant details
- p.Ile161Ser
- rs58058996
- ClinGen CA216724
- ClinVar RCV000056597
- ClinVar RCV001731291
- Pathogenic
- not provided; Epidermolysis bullosa simplex 1C, localized
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.68
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Epidermolysis bullosa simplex 1C, localized)
- EBI: Pathogenic (in EBS2C)
- UniProt: Pathogenic (in EBS2C)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype… (PMID 16098032)
- Cited in: A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne. (PMID 7537780)