S59T (p.Ser59Thr) variant of COL7A1 (Collagen alpha-1(VII) chain)
S59T (p.Ser59Thr) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
S59T (p.Ser59Thr) variant details
- p.Ser59Thr
- gnomAD rs1261970889
- Missense
- CADD 12.70
- PolyPhen-2 0.04
- SIFT 0.46
- Most common in the South Asian population (allele frequency 1.2e-05)