A72P (p.Ala72Pro) variant of COL7A1 (Collagen alpha-1(VII) chain)
A72P (p.Ala72Pro) 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.
A72P (p.Ala72Pro) variant details
- p.Ala72Pro
- rs2531364518
- ClinGen CA352749404
- ClinVar RCV003825676
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance