N161K (p.Asn161Lys) variant of KRT9 (Keratin, type I cytoskeletal 9)
N161K (p.Asn161Lys) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epidermolytic palmoplantar keratoderma, 1; Palmoplantar keratoderma, epidermolyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
N161K (p.Asn161Lys) variant details
- p.Asn161Lys
- rs57536312
- ClinGen CA115906
- ClinVar RCV000003136
- ClinVar RCV000056463
- Likely pathogenic
- Epidermolytic palmoplantar keratoderma, 1; Palmoplantar keratoderma, epidermolyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- MutPred 0.97
- ClinVar: Likely pathogenic (Epidermolytic palmoplantar keratoderma, 1; Palmoplantar keratode)
- 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)