D95Y (p.Asp95Tyr) variant of COL7A1 (Collagen alpha-1(VII) chain)
D95Y (p.Asp95Tyr) 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 provided.
D95Y (p.Asp95Tyr) variant details
- p.Asp95Tyr
- rs2107802249
- ClinGen CA2573137053
- ClinVar RCV001900662
- Ensembl rs2107802249
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance