L419Q (p.Leu419Gln) variant of KRT14 (Keratin, type I cytoskeletal 14)
L419Q (p.Leu419Gln) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa simplex 1A, generalized severe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L419Q (p.Leu419Gln) variant details
- p.Leu419Gln
- rs57364972
- ClinGen CA216872
- ClinVar RCV000015727
- ClinVar RCV000056691
- Pathogenic
- Epidermolysis bullosa simplex 1A, generalized severe
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Epidermolysis bullosa simplex 1A, generalized severe)
- EBI: Pathogenic (in EBS1A)
- UniProt: Pathogenic (in EBS1A)
- Structural context available
- Cited in: Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14… (PMID 10733662)
- Cited in: Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and… (PMID 12655565)