V171M (p.Val171Met) variant of KRT9 (Keratin, type I cytoskeletal 9)
V171M (p.Val171Met) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V171M (p.Val171Met) variant details
- p.Val171Met
- rs57019720
- ClinGen CA115913
- ClinVar RCV000056471
- ClinVar RCV004562196
- Pathogenic
- Epidermolytic palmoplantar keratoderma, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.90
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Epidermolytic palmoplantar keratoderma, 1)
- EBI: Pathogenic (in EPPK1)
- UniProt: Pathogenic (in EPPK1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9… (PMID 12072061)
- Cited in: A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. (PMID 12838553)