R89W (p.Arg89Trp) variant of COL7A1 (Collagen alpha-1(VII) chain)
R89W (p.Arg89Trp) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
R89W (p.Arg89Trp) variant details
- p.Arg89Trp
- TOPMed rs1382309347
- gnomAD rs1382309347
- Missense
- CADD 32.00
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00013)