R28G (p.Arg28Gly) variant of COL7A1 (Collagen alpha-1(VII) chain)
R28G (p.Arg28Gly) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes variant effect predictions and population frequency data.
R28G (p.Arg28Gly) variant details
- p.Arg28Gly
- rs1328022633
- ClinGen CA352750167
- ClinVar RCV003555085
- gnomAD rs1328022633
- Likely pathogenic
- not provided
- Missense
- CADD 25.00
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)