L5F (p.Leu5Phe) variant of COL7A1 (Collagen alpha-1(VII) chain)
L5F (p.Leu5Phe) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- 1000Genomes rs201242396
- ESP rs201242396
- ExAC rs201242396
- TOPMed rs201242396
- Likely benign
- Missense
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available