N161S (p.Asn161Ser) variant of KRT9 (Keratin, type I cytoskeletal 9)
N161S (p.Asn161Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
N161S (p.Asn161Ser) variant details
- p.Asn161Ser
- rs56707768
- ClinGen CA115909
- ClinVar RCV000056461
- ClinVar RCV004562192
- Pathogenic
- Epidermolytic palmoplantar keratoderma, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.77
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (Epidermolytic palmoplantar keratoderma, 1; not provided)
- EBI: Pathogenic (in EPPK1)
- UniProt: Pathogenic (in EPPK1)
- Most common in the African/African-American population (allele frequency 0.00031)
- 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 five Korean families with epidermolytic palmoplantar keratoderma. (PMID 14675368)