S52G (p.Ser52Gly) variant of COL7A1 (Collagen alpha-1(VII) chain)
S52G (p.Ser52Gly) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
S52G (p.Ser52Gly) variant details
- p.Ser52Gly
- TOPMed rs1043728109
- gnomAD rs1043728109
- Missense
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)