A37G (p.Ala37Gly) variant of COL7A1 (Collagen alpha-1(VII) chain)
A37G (p.Ala37Gly) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
A37G (p.Ala37Gly) variant details
- p.Ala37Gly
- ESP rs371000403
- ExAC rs371000403
- TOPMed rs371000403
- gnomAD rs371000403
- Missense
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)