T117A (p.Thr117Ala) variant of COL7A1 (Collagen alpha-1(VII) chain)
T117A (p.Thr117Ala) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
T117A (p.Thr117Ala) variant details
- p.Thr117Ala
- gnomAD rs2045865410
- Missense
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)