I39L (p.Ile39Leu) variant of COL7A1 (Collagen alpha-1(VII) chain)
I39L (p.Ile39Leu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
I39L (p.Ile39Leu) variant details
- p.Ile39Leu
- ExAC rs773612591
- gnomAD rs773612591
- Missense
- CADD 26.80
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)