Q122P (p.Gln122Pro) variant of KRT16 (Keratin, type I cytoskeletal 16)
Q122P (p.Gln122Pro) 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 0.80 / 1. The record also includes published literature and structural context.
Q122P (p.Gln122Pro) variant details
- p.Gln122Pro
- rs59349773
- ClinGen CA217378
- ClinVar RCV000015709
- ClinVar RCV000057031
- Pathogenic
- Pachyonychia congenita 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- MutPred 0.80
- ClinVar: Pathogenic (Pachyonychia congenita 1)
- EBI: Pathogenic (in PC1)
- UniProt: Pathogenic (in PC1)
- Structural context available
- Cited in: Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. (PMID 10606845)
- Cited in: Pachyonychia Congenita. (PMID 20301457)