T2M (p.Thr2Met) variant of COL7A1 (Collagen alpha-1(VII) chain)
T2M (p.Thr2Met) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
T2M (p.Thr2Met) variant details
- p.Thr2Met
- Ensembl rs1335363915
- Missense
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)