Y98D (p.Tyr98Asp) variant of KRT17 (Keratin, type I cytoskeletal 17)
Y98D (p.Tyr98Asp) 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 0.96 / 1. The record also includes published literature and structural context.
Y98D (p.Tyr98Asp) variant details
- p.Tyr98Asp
- rs28933088
- ClinGen CA216620
- ClinVar RCV000015690
- ClinVar RCV000056521
- Pathogenic
- Pachyonychia congenita 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Pachyonychia congenita 2)
- EBI: Pathogenic (in PC2)
- UniProt: Pathogenic (in PC2)
- Structural context available
- Cited in: Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma… (PMID 9008238)
- Cited in: Pachyonychia Congenita. (PMID 20301457)