R388H (p.Arg388His) variant of KRT14 (Keratin, type I cytoskeletal 14)
R388H (p.Arg388His) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa simple. 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.
R388H (p.Arg388His) variant details
- p.Arg388His
- rs58645163
- ClinGen CA8562484
- ClinVar RCV000487370
- ClinVar RCV005355937
- Likely pathogenic
- not provided; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa simple
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.84
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.07
- CADD 24.30
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (not provided; Dermatopathia pigmentosa reticularis; Epidermolysi)
- EBI: Pathogenic (in EBS1D)
- UniProt: Pathogenic (in EBS1D)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0037)
- Structural context available
- Cited in: Epidermolysis bullosa simplex in Israel: clinical and genetic features. (PMID 12707098)
- Cited in: Digenic inheritance in epidermolysis bullosa simplex. (PMID 22832485)