L402R (p.Leu402Arg) variant of KRT14 (Keratin, type I cytoskeletal 14)
L402R (p.Leu402Arg) 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 Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
L402R (p.Leu402Arg) variant details
- p.Leu402Arg
- rs1907401835
- ClinGen CA399475517
- ClinVar RCV001352831
- Ensembl rs1907401835
- Pathogenic
- Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 0.91
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- ClinVar: Pathogenic (Epidermolysis bullosa simplex)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)