L47F (p.Leu47Phe) variant of ABCC6 (O95255)
L47F (p.Leu47Phe) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
L47F (p.Leu47Phe) variant details
- p.Leu47Phe
- NCI-TCGA TCGA novel
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available