Q122R (p.Gln122Arg) variant of KRT16 (Keratin, type I cytoskeletal 16)
Q122R (p.Gln122Arg) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pachyonychia congenita 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Q122R (p.Gln122Arg) variant details
- p.Gln122Arg
- rs59349773
- ClinGen CA277512
- ClinVar RCV000198279
- TOPMed rs59349773
- Likely pathogenic
- Pachyonychia congenita 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.89
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Pachyonychia congenita 1)
- EBI: Pathogenic (in PC1)
- UniProt: Pathogenic (in PC1)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Pachyonychia Congenita. (PMID 20301457)