E461K (p.Glu461Lys) variant of KRT6B (Keratin, type II cytoskeletal 6B)
E461K (p.Glu461Lys) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pachyonychia congenita 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
E461K (p.Glu461Lys) variant details
- p.Glu461Lys
- rs267607473
- ClinGen CA217366
- ClinVar RCV000057022
- ClinVar RCV002483085
- Pathogenic/Likely pathogenic
- Pachyonychia congenita 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic/Likely pathogenic (Pachyonychia congenita 4; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Pachyonychia Congenita. (PMID 20301457)