G2434R (p.Gly2434Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2434R (p.Gly2434Arg) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epidermolysis bullosa dystrophica. The record also includes variant effect predictions and published literature.
G2434R (p.Gly2434Arg) variant details
- p.Gly2434Arg
- rs2043856489
- ClinGen CA352647937
- NCI-TCGA Cosmic COSV1000
- ClinVar RCV001352861
- Pathogenic/Likely pathogenic
- Epidermolysis bullosa dystrophica
- Missense
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely 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)