V102M (p.Val102Met) variant of KRT17 (Keratin, type I cytoskeletal 17)
V102M (p.Val102Met) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pachyonychia congenita 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V102M (p.Val102Met) variant details
- p.Val102Met
- rs59977263
- ClinGen CA216624
- ClinVar RCV000015703
- ClinVar RCV000056524
- Pathogenic
- Pachyonychia congenita 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.89
- CADD 26.10
- PolyPhen-2 0.51
- SIFT 0.01
- ClinVar: Pathogenic (Pachyonychia congenita 2)
- EBI: Pathogenic (in PC2)
- UniProt: Pathogenic (in PC2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. (PMID 11874497)
- Cited in: Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2. (PMID 15795125)