E472K (p.Glu472Lys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
E472K (p.Glu472Lys) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pachyonychia congenita 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E472K (p.Glu472Lys) variant details
- p.Glu472Lys
- rs60554162
- ClinGen CA124169
- ClinVar RCV000015742
- ClinVar RCV000056998
- Pathogenic/Likely pathogenic
- Pachyonychia congenita 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.96
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic/Likely pathogenic (Pachyonychia congenita 3; not provided)
- EBI: Pathogenic (in PC3)
- UniProt: Pathogenic (in PC3)
- Structural context available
- Cited in: Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (PMID 11886499)
- Cited in: A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (PMID 17719747)