Q172P (p.Gln172Pro) variant of KRT9 (Keratin, type I cytoskeletal 9)
Q172P (p.Gln172Pro) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolytic palmoplantar keratoderma, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
Q172P (p.Gln172Pro) variant details
- p.Gln172Pro
- rs59878153
- ClinGen CA115904
- ClinVar RCV000056472
- ClinVar RCV004562187
- Pathogenic
- Epidermolytic palmoplantar keratoderma, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- MutPred 0.89
- ClinVar: Pathogenic (Epidermolytic palmoplantar keratoderma, 1)
- EBI: Pathogenic (in EPPK1)
- UniProt: Pathogenic (in EPPK1)
- Structural context available
- Cited in: A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. (PMID 12838553)
- Cited in: Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). (PMID 7512862)