G120R (p.Gly120Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G120R (p.Gly120Arg) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
G120R (p.Gly120Arg) variant details
- p.Gly120Arg
- ExAC rs763814269
- Missense
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)