N161I (p.Asn161Ile) variant of KRT9 (Keratin, type I cytoskeletal 9)
N161I (p.Asn161Ile) 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 0.99 / 1. The record also includes published literature and structural context.
N161I (p.Asn161Ile) variant details
- p.Asn161Ile
- rs56707768
- ClinGen CA115915
- ClinVar RCV000056462
- ClinVar RCV004562198
- Pathogenic
- Epidermolytic palmoplantar keratoderma, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- MutPred 0.99
- ClinVar: Pathogenic (Epidermolytic palmoplantar keratoderma, 1)
- EBI: Pathogenic (in EPPK1)
- UniProt: Pathogenic (in EPPK1)
- Structural context available
- Cited in: Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a… (PMID 12192490)
- Cited in: A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. (PMID 12838553)