R114H (p.Arg114His) variant of KRT13 (Keratin, type I cytoskeletal 13)
R114H (p.Arg114His) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R114H (p.Arg114His) variant details
- p.Arg114His
- rs267607388
- ClinGen CA217671
- cosmic curated COSV55840
- ClinVar RCV000057208
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.95
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: not provided (not provided)
- EBI: Variant of uncertain significance (in WSN2)
- UniProt: Uncertain significance (in WSN2)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: A de novo missense mutation in the keratin 13 gene in oral white sponge naevus. (PMID 18616775)
- Cited in: Identification of two novel mutations in keratin 13 as the cause of white sponge naevus. (PMID 10561721)