L128Q (p.Leu128Gln) variant of KRT16 (Keratin, type I cytoskeletal 16)
L128Q (p.Leu128Gln) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pachyonychia congenita 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L128Q (p.Leu128Gln) variant details
- p.Leu128Gln
- rs28928895
- ClinGen CA217386
- ClinVar RCV000015713
- ClinVar RCV000057040
- Pathogenic
- Pachyonychia congenita 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- MutPred 0.96
- ClinVar: Pathogenic (Pachyonychia congenita 1)
- EBI: Pathogenic (in PC1)
- UniProt: Pathogenic (in PC1)
- Structural context available
- Cited in: Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (PMID 11886499)
- Cited in: A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (PMID 17719747)