L124R (p.Leu124Arg) variant of KRT16 (Keratin, type I cytoskeletal 16)
L124R (p.Leu124Arg) 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 Pachyonychia congenita 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L124R (p.Leu124Arg) variant details
- p.Leu124Arg
- rs58293603
- ClinGen CA217381
- ClinVar RCV000015710
- ClinVar RCV000057034
- Pathogenic
- Pachyonychia congenita 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- MutPred 0.99
- ClinVar: Pathogenic (Pachyonychia congenita 1)
- EBI: Pathogenic (in PC1)
- UniProt: Pathogenic (in PC1)
- Structural context available
- Cited in: Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar… (PMID 10839714)
- Cited in: Pachyonychia Congenita. (PMID 20301457)