L111P (p.Leu111Pro) variant of KRT13 (Keratin, type I cytoskeletal 13)
L111P (p.Leu111Pro) 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 0.97 / 1. The record also includes published literature and structural context.
L111P (p.Leu111Pro) variant details
- p.Leu111Pro
- rs59897026
- ClinGen CA151546
- ClinVar RCV000057206
- ClinVar RCV000116204
- Pathogenic
- White sponge nevus 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (White sponge nevus 2)
- EBI: Pathogenic (in WSN2)
- UniProt: Pathogenic (in WSN2)
- Structural context available
- Cited in: Constitutional mutation of keratin 13 gene in familial white sponge nevus. (PMID 14600690)
- Cited in: Identification of two novel mutations in keratin 13 as the cause of white sponge naevus. (PMID 10561721)