G1890S (p.Gly1890Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1890S (p.Gly1890Ser) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pretibial dystrophic epidermolysis bullosa; Recessive dystrophic epidermolysis b. The record also includes variant effect predictions and published literature.
G1890S (p.Gly1890Ser) variant details
- p.Gly1890Ser
- rs2107682264
- ClinGen CA352667779
- ClinVar RCV005252122
- Ensembl rs2107682264
- Likely pathogenic
- Pretibial dystrophic epidermolysis bullosa; Recessive dystrophic epidermolysis b
- Missense
- AlphaMissense 0.29
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Likely pathogenic (Pretibial dystrophic epidermolysis bullosa; Recessive dystrophic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)