G1314R (p.Gly1314Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1314R (p.Gly1314Arg) 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 not provided; Epidermolysis bullosa dystrophica. The record also includes variant effect predictions and population frequency data.
G1314R (p.Gly1314Arg) variant details
- p.Gly1314Arg
- rs1266893039
- ClinGen CA352698092
- ClinVar RCV002651691
- gnomAD rs1266893039
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa dystrophica
- Missense
- CADD 23.50
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermolysis bullosa dystrophica)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)