I479F (p.Ile479Phe) variant of KRT1 (Keratin, type II cytoskeletal 1)
I479F (p.Ile479Phe) 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 Ichthyosis, annular epidermolytic, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
I479F (p.Ile479Phe) variant details
- p.Ile479Phe
- rs61218439
- ClinGen CA126047
- ClinVar RCV000057062
- ClinVar RCV002463994
- Pathogenic
- Ichthyosis, annular epidermolytic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Ichthyosis, annular epidermolytic, 2)
- EBI: Pathogenic (in AEI2)
- UniProt: Pathogenic (in AEI2)
- Structural context available
- Cited in: Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1. (PMID 10053007)
- Cited in: Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene. (PMID 10597140)