R163Q (p.Arg163Gln) variant of KRT9 (Keratin, type I cytoskeletal 9)
R163Q (p.Arg163Gln) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Palmoplantar keratodermas; Epidermolytic palmoplantar keratoderma, 1; Inborn gen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R163Q (p.Arg163Gln) variant details
- p.Arg163Gln
- rs57758262
- ClinGen CA115907
- ClinVar RCV000003137
- ClinVar RCV000056466
- Pathogenic/Likely pathogenic
- Palmoplantar keratodermas; Epidermolytic palmoplantar keratoderma, 1; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.83
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Palmoplantar keratodermas; Epidermolytic palmoplantar keratoderm)
- EBI: Pathogenic (in EPPK1)
- UniProt: Pathogenic (in EPPK1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma. (PMID 10632938)
- Cited in: Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9… (PMID 12072061)