M327T (p.Met327Thr) variant of KRT5 (Keratin, type II cytoskeletal 5)
M327T (p.Met327Thr) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dowling-Degos disease 1; Epidermolysis bullosa simplex 1C, localized; Epidermoly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
M327T (p.Met327Thr) variant details
- p.Met327Thr
- rs58072617
- ClinGen CA216803
- ClinVar RCV000056651
- ClinVar RCV000762900
- Pathogenic
- Dowling-Degos disease 1; Epidermolysis bullosa simplex 1C, localized; Epidermoly
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Dowling-Degos disease 1; Epidermolysis bullosa simplex 1C, local)
- EBI: Pathogenic (in EBS2C)
- UniProt: Pathogenic (in EBS2C)
- Structural context available
- Cited in: Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa… (PMID 7520042)
- Cited in: Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the… (PMID 8807337)