L115P (p.Leu115Pro) variant of KRT13 (Keratin, type I cytoskeletal 13)
L115P (p.Leu115Pro) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
L115P (p.Leu115Pro) variant details
- p.Leu115Pro
- rs60906702
- ClinGen CA217673
- ClinVar RCV000057209
- UniProt VAR 016037
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in WSN2)
- UniProt: Pathogenic (in WSN2)
- Structural context available
- Cited in: Identification of two novel mutations in keratin 13 as the cause of white sponge naevus. (PMID 10561721)
- Cited in: A novel mutation in the keratin 13 gene causing oral white sponge nevus. (PMID 11379896)