L442Q (p.Leu442Gln) variant of KRT10 (Keratin, type I cytoskeletal 10)
L442Q (p.Leu442Gln) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolytic hyperkeratosis 2A, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature.
L442Q (p.Leu442Gln) variant details
- p.Leu442Gln
- rs58026994
- ClinGen CA124136
- ClinVar RCV000056479
- ClinVar RCV004593966
- Pathogenic
- Epidermolytic hyperkeratosis 2A, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Epidermolytic hyperkeratosis 2A, autosomal dominant)
- EBI: Pathogenic (in EHK2A)
- UniProt: Pathogenic (in EHK2A)
- Cited in: Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. (PMID 7508181)
- Cited in: A novel substitution in keratin 10 in epidermolytic hyperkeratosis. (PMID 10201536)