E17Q (p.Glu17Gln) variant of COL7A1 (Collagen alpha-1(VII) chain)
E17Q (p.Glu17Gln) 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.
E17Q (p.Glu17Gln) variant details
- p.Glu17Gln
- rs748723344
- ClinGen CA2381676
- ClinVar RCV002751296
- ClinVar RCV006269708
- Uncertain significance
- not specified; not provided
- Missense
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.52
- 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 3.7e-06)