R26G (p.Arg26Gly) variant of COL7A1 (Collagen alpha-1(VII) chain)
R26G (p.Arg26Gly) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The record also includes variant effect predictions and population frequency data.
R26G (p.Arg26Gly) variant details
- p.Arg26Gly
- rs923284415
- ClinGen CA73995060
- ClinVar RCV001984767
- TOPMed rs923284415
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)