L34F (p.Leu34Phe) variant of COL7A1 (Collagen alpha-1(VII) chain)
L34F (p.Leu34Phe) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
L34F (p.Leu34Phe) variant details
- p.Leu34Phe
- TOPMed rs2045937244
- Missense
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.6e-05)