I20L (p.Ile20Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
I20L (p.Ile20Leu) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
I20L (p.Ile20Leu) variant details
- p.Ile20Leu
- TOPMed rs1342128671
- Likely benign
- Missense
- MetaLR 0.31
- MetaSVM -0.69
- SIFT 0.85
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available