G1922V (p.Gly1922Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1922V (p.Gly1922Val) 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 Epidermolysis bullosa pruriginosa. The record also includes variant effect predictions and published literature.
G1922V (p.Gly1922Val) variant details
- p.Gly1922Val
- rs2107680342
- ClinGen CA352666449
- ClinVar RCV001594415
- Ensembl rs2107680342
- Likely pathogenic
- Epidermolysis bullosa pruriginosa
- Missense
- AlphaMissense 0.83
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (Epidermolysis bullosa pruriginosa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)