L44V (p.Leu44Val) variant of PDGFRB (P09619)
L44V (p.Leu44Val) in PDGFRB (P09619) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
L44V (p.Leu44Val) variant details
- p.Leu44Val
- TOPMed rs1239434481
- gnomAD rs1239434481
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available