N125K (p.Asn125Lys) variant of KRT16 (Keratin, type I cytoskeletal 16)
N125K (p.Asn125Lys) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pachyonychia congenita 1; Palmoplantar keratoderma, nonepidermolytic, focal 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
N125K (p.Asn125Lys) variant details
- p.Asn125Lys
- ExAC rs774650244
- TOPMed rs774650244
- gnomAD rs774650244
- Likely pathogenic
- Pachyonychia congenita 1; Palmoplantar keratoderma, nonepidermolytic, focal 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.82
- CADD 19.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Pachyonychia congenita 1; Palmoplantar keratoderma, nonepidermol)
- EBI: Likely pathogenic (in FNEPPK1 and PC1)
- UniProt: Likely pathogenic (in FNEPPK1 and PC1)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available