E478Q (p.Glu478Gln) variant of KRT1 (Keratin, type II cytoskeletal 1)
E478Q (p.Glu478Gln) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolytic hyperkeratosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
E478Q (p.Glu478Gln) variant details
- p.Glu478Gln
- rs59089201
- ClinGen CA217421
- ClinVar RCV000057060
- ClinVar RCV005246609
- Pathogenic
- Epidermolytic hyperkeratosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Epidermolytic hyperkeratosis 1)
- EBI: Pathogenic (in EHK1)
- UniProt: Pathogenic (in EHK1)
- Structural context available
- Cited in: Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28… (PMID 21271994)
- Cited in: An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic… (PMID 10232403)