I61F (p.Ile61Phe) variant of COL5A2 (Collagen alpha-2(V) chain)
I61F (p.Ile61Phe) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1. The record also includes structural context.
I61F (p.Ile61Phe) variant details
- p.Ile61Phe
- TOPMed rs1687237119
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- UniProt: Uncertain significance
- Structural context available