E461K (p.Glu461Lys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
E461K (p.Glu461Lys) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pachyonychia congenita 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
E461K (p.Glu461Lys) variant details
- p.Glu461Lys
- rs267607468
- ClinGen CA217327
- ClinVar RCV000056986
- ClinVar RCV005007986
- Likely pathogenic
- Pachyonychia congenita 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Pachyonychia congenita 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Pachyonychia Congenita. (PMID 20301457)