A18T (p.Ala18Thr) variant of COL7A1 (Collagen alpha-1(VII) chain)
A18T (p.Ala18Thr) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- TOPMed rs1468805316
- gnomAD rs1468805316
- Missense
- CADD 19.10
- PolyPhen-2 0.16
- SIFT 0.25
- Population evidence available