Y415C (p.Tyr415Cys) variant of KRT14 (Keratin, type I cytoskeletal 14)
Y415C (p.Tyr415Cys) 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 0.95 / 1. The record also includes published literature and structural context.
Y415C (p.Tyr415Cys) variant details
- p.Tyr415Cys
- rs59442925
- ClinGen CA216863
- ClinVar RCV000056686
- ClinVar RCV001352834
- Pathogenic
- Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Epidermolysis bullosa simplex)
- EBI: Pathogenic (in EBS1C)
- UniProt: Pathogenic (in EBS1C)
- Structural context available
- Cited in: Epidermolysis bullosa simplex in Israel: clinical and genetic features. (PMID 12707098)
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)