R22Q (p.Arg22Gln) variant of COL7A1 (Collagen alpha-1(VII) chain)
R22Q (p.Arg22Gln) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The record also includes variant effect predictions and population frequency data.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs537748623
- ClinGen CA73995063
- ClinVar RCV003082017
- TOPMed rs537748623
- Likely benign
- not provided
- Missense
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 3.8e-05)