R114C (p.Arg114Cys) variant of KRT13 (Keratin, type I cytoskeletal 13)
R114C (p.Arg114Cys) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in WSN2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R114C (p.Arg114Cys) variant details
- p.Arg114Cys
- rs545085703
- UniProt VAR 086269
- TOPMed rs545085703
- gnomAD rs545085703
- Uncertain significance
- in WSN2
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 0.63
- SIFT 0.02
- EBI: Variant of uncertain significance (in WSN2)
- UniProt: Uncertain significance (in WSN2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Keratin 13 mutations associated with oral white sponge nevus in two Chinese families. (PMID 25606422)
- Cited in: Identification of two novel mutations in keratin 13 as the cause of white sponge naevus. (PMID 10561721)