R94P (p.Arg94Pro) variant of KRT17 (Keratin, type I cytoskeletal 17)
R94P (p.Arg94Pro) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pachyonychia congenita 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R94P (p.Arg94Pro) variant details
- p.Arg94Pro
- rs28928897
- ClinGen CA216613
- ClinVar RCV000015698
- ClinVar RCV000056516
- Pathogenic
- Pachyonychia congenita 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.90
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic (Pachyonychia congenita 2)
- EBI: Pathogenic (in PC2)
- UniProt: Pathogenic (in PC2)
- Structural context available
- Cited in: Novel keratin 17 mutations in pachyonychia congenita type 2. (PMID 11348474)
- Cited in: Pachyonychia Congenita. (PMID 20301457)