N112S (p.Asn112Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
N112S (p.Asn112Ser) 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 0.96 / 1. The record also includes published literature and structural context.
N112S (p.Asn112Ser) variant details
- p.Asn112Ser
- rs59970018
- ClinGen CA217669
- ClinVar RCV000057207
- UniProt VAR 016036
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 0.92
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.98
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in WSN2)
- UniProt: Pathogenic (in WSN2)
- Structural context available
- Cited in: A novel mutation in the keratin 13 gene causing oral white sponge nevus. (PMID 11379896)
- Cited in: Identification of two novel mutations in keratin 13 as the cause of white sponge naevus. (PMID 10561721)