C18* (p.Cys18Ter) variant of KRT14 (Keratin, type I cytoskeletal 14)
C18* (p.Cys18Ter) in KRT14 (Keratin, type I cytoskeletal 14) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C18* (p.Cys18Ter) variant details
- p.Cys18Ter
- rs60831116
- ClinGen CA124159
- ClinVar RCV000015731
- ClinVar RCV000056744
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance. (PMID 1303619)
- Cited in: Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias… (PMID 16960809)