I39V (p.Ile39Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
I39V (p.Ile39Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
I39V (p.Ile39Val) variant details
- p.Ile39Val
- ExAC rs773612591
- gnomAD rs773612591
- Missense
- CADD 22.60
- PolyPhen-2 0.31
- SIFT 0.14
- Most common in the HGDP:TUJIA population (allele frequency 0.05)