Y2858H (p.Tyr2858His) variant of COL7A1 (Collagen alpha-1(VII) chain)
Y2858H (p.Tyr2858His) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa dystrophica. The record also includes variant effect predictions and published literature.
Y2858H (p.Tyr2858His) variant details
- p.Tyr2858His
- rs2043545754
- ClinGen CA352634067
- ClinVar RCV001352719
- Ensembl rs2043545754
- Pathogenic
- Epidermolysis bullosa dystrophica
- Missense
- AlphaMissense 0.68
- MetaLR 0.51
- MetaSVM -0.29
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.59
- ClinVar: Pathogenic (Epidermolysis bullosa dystrophica)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)