R89Q (p.Arg89Gln) variant of COL7A1 (Collagen alpha-1(VII) chain)
R89Q (p.Arg89Gln) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Epidermolysis bullosa dystrophica. The record also includes variant effect predictions and population frequency data.
R89Q (p.Arg89Gln) variant details
- p.Arg89Gln
- TOPMed rs942484654
- gnomAD rs942484654
- Uncertain significance
- Epidermolysis bullosa dystrophica
- Missense
- CADD 24.80
- PolyPhen-2 0.02
- SIFT 0.19
- ClinVar: Uncertain significance (Epidermolysis bullosa dystrophica)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)