E163K (p.Glu163Lys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
E163K (p.Glu163Lys) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pachyonychia congenita 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
E163K (p.Glu163Lys) variant details
- p.Glu163Lys
- rs267607464
- ClinGen CA217343
- ClinVar RCV000057001
- ClinVar RCV005624313
- Pathogenic
- Pachyonychia congenita 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Pachyonychia congenita 3; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Pachyonychia Congenita. (PMID 20301457)