G100E (p.Gly100Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G100E (p.Gly100Glu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
G100E (p.Gly100Glu) variant details
- p.Gly100Glu
- TOPMed rs1239821559
- gnomAD rs1239821559
- Missense
- CADD 23.90
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)