A12T (p.Ala12Thr) variant of COL7A1 (Collagen alpha-1(VII) chain)
A12T (p.Ala12Thr) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- ExAC rs771137614
- gnomAD rs771137614
- Missense
- CADD 13.90
- PolyPhen-2 0.04
- SIFT 0.16
- Most common in the South Asian population (allele frequency 3.8e-05)