N125S (p.Asn125Ser) variant of KRT16 (Keratin, type I cytoskeletal 16)
N125S (p.Asn125Ser) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Palmoplantar keratoderma, nonepidermolytic, focal 1; Pachyonychia congenita 1; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
N125S (p.Asn125Ser) variant details
- p.Asn125Ser
- rs60723330
- ClinGen CA124158
- ClinVar RCV000015706
- ClinVar RCV000057037
- Pathogenic
- Palmoplantar keratoderma, nonepidermolytic, focal 1; Pachyonychia congenita 1; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.84
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Pathogenic (Palmoplantar keratoderma, nonepidermolytic, focal 1; Pachyonychi)
- EBI: Pathogenic (in FNEPPK1 and PC1)
- UniProt: Pathogenic (in FNEPPK1 and PC1)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: The genetic basis of pachyonychia congenita. (PMID 16250206)
- Cited in: A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (PMID 17719747)