L5P (p.Leu5Pro) variant of COL7A1 (Collagen alpha-1(VII) chain)
L5P (p.Leu5Pro) 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.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- rs2531378635
- ClinGen CA352750634
- ClinVar RCV002820594
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance