L44P (p.Leu44Pro) variant of DMD (Dystrophin)
L44P (p.Leu44Pro) in DMD (Dystrophin) 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.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- rs2524951459
- ClinGen CA412674921
- ClinVar RCV003146143
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available