M108T (p.Met108Thr) variant of KRT13 (Keratin, type I cytoskeletal 13)
M108T (p.Met108Thr) 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 0.92 / 1. The record also includes published literature and structural context.
M108T (p.Met108Thr) variant details
- p.Met108Thr
- rs60364670
- ClinGen CA217667
- ClinVar RCV000057205
- UniProt VAR 016035
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.94
- 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)