R127P (p.Arg127Pro) variant of KRT16 (Keratin, type I cytoskeletal 16)
R127P (p.Arg127Pro) 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 0.98 / 1. The record also includes published literature and structural context.
R127P (p.Arg127Pro) variant details
- p.Arg127Pro
- rs57424749
- ClinGen CA217385
- ClinVar RCV000015708
- ClinVar RCV000057039
- Pathogenic
- Pachyonychia congenita 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- MutPred 0.98
- ClinVar: Pathogenic (Pachyonychia congenita 1)
- EBI: Pathogenic (in PC1)
- UniProt: Pathogenic (in PC1)
- Structural context available
- Cited in: Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. (PMID 10606845)
- Cited in: A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (PMID 17719747)