M121T (p.Met121Thr) variant of KRT16 (Keratin, type I cytoskeletal 16)
M121T (p.Met121Thr) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Ichthyosis and erythrokeratoderma; Pachyonychia congenita 1; Palmoplantar kerato. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
M121T (p.Met121Thr) variant details
- p.Met121Thr
- rs28928894
- ClinGen CA217377
- ClinVar RCV000015712
- ClinVar RCV000057030
- Pathogenic/Likely pathogenic
- Ichthyosis and erythrokeratoderma; Pachyonychia congenita 1; Palmoplantar kerato
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- MutPred 0.97
- ClinVar: Pathogenic/Likely pathogenic (Ichthyosis and erythrokeratoderma; Pachyonychia congenita 1; Pal)
- 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: Pachyonychia Congenita. (PMID 20301457)