F82L (p.Phe82Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
F82L (p.Phe82Leu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
F82L (p.Phe82Leu) variant details
- p.Phe82Leu
- rs142161948
- ClinGen CA384525984
- ClinVar RCV002958932
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available