S5* (p.Ser5Ter) variant of KRT5 (Keratin, type II cytoskeletal 5)
S5* (p.Ser5Ter) in KRT5 (Keratin, type II cytoskeletal 5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S5* (p.Ser5Ter) variant details
- p.Ser5Ter
- rs58751565
- ClinGen CA124171
- ClinVar RCV000015753
- ClinVar RCV000056572
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.811
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Enhanced cytoplasmic expression of desmocollin 3 in epidermal rete ridges of Dowling-Degos syndrome. (PMID 14674915)
- Cited in: Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. (PMID 16465624)