A83T (p.Ala83Thr) variant of COL5A2 (Collagen alpha-2(V) chain)
A83T (p.Ala83Thr) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A83T (p.Ala83Thr) variant details
- p.Ala83Thr
- Ensembl rs1553519033
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available