Q7* (p.Gln7Ter) variant of KRT14 (Keratin, type I cytoskeletal 14)
Q7* (p.Gln7Ter) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- rs267607391
- ClinGen CA216885
- ClinVar RCV000056699
- ClinVar RCV000415603
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias… (PMID 16960809)