R4Q (p.Arg4Gln) variant of COL7A1 (Collagen alpha-1(VII) chain)
R4Q (p.Arg4Gln) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- TOPMed rs2045993672
- Missense
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.3e-05)