G100R (p.Gly100Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G100R (p.Gly100Arg) 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 not specified; not provided. The record also includes variant effect predictions and population frequency data.
G100R (p.Gly100Arg) variant details
- p.Gly100Arg
- rs748986531
- ClinGen CA2381583
- ClinVar RCV003088850
- ClinVar RCV005239657
- Uncertain significance
- not specified; not provided
- Missense
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)