R125P (p.Arg125Pro) variant of KRT14 (Keratin, type I cytoskeletal 14)
R125P (p.Arg125Pro) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Epidermolysis bullosa simplex, Koebner type; Dermatopathia pigment. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R125P (p.Arg125Pro) variant details
- p.Arg125Pro
- rs58330629
- ClinGen CA216923
- ClinVar RCV000056719
- ClinVar RCV005862961
- Pathogenic
- not provided; Epidermolysis bullosa simplex, Koebner type; Dermatopathia pigment
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Epidermolysis bullosa simplex 1D, generalized, intermediate or s)
- EBI: Pathogenic (in EBS1A)
- UniProt: Pathogenic (in EBS1A)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)