F54L (p.Phe54Leu) variant of COL7A1 (Collagen alpha-1(VII) chain)
F54L (p.Phe54Leu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- TOPMed rs2045931796
- Missense
- CADD 22.00
- PolyPhen-2 0.39
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)