L119P (p.Leu119Pro) variant of KRT13 (Keratin, type I cytoskeletal 13)
L119P (p.Leu119Pro) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of White sponge nevus 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
L119P (p.Leu119Pro) variant details
- p.Leu119Pro
- rs60440396
- ClinGen CA124161
- ClinVar RCV000015734
- ClinVar RCV000057210
- Pathogenic
- White sponge nevus 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Pathogenic (White sponge nevus 2)
- EBI: Pathogenic (in WSN2)
- UniProt: Pathogenic (in WSN2)
- Structural context available
- Cited in: Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus. (PMID 7493031)
- Cited in: Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. (PMID 7532199)