I479T (p.Ile479Thr) variant of KRT1 (Keratin, type II cytoskeletal 1)
I479T (p.Ile479Thr) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Annular epidermolytic ichthyosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
I479T (p.Ile479Thr) variant details
- p.Ile479Thr
- rs57837128
- ClinGen CA126046
- ClinVar RCV000017262
- ClinVar RCV000057063
- Pathogenic/Likely pathogenic
- not provided; Annular epidermolytic ichthyosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic/Likely pathogenic (not provided; Annular epidermolytic ichthyosis)
- EBI: Pathogenic (in AEI2 and EHK1)
- UniProt: Pathogenic (in AEI2 and EHK1)
- 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: Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. (PMID 10688370)