R31L (p.Arg31Leu) variant of LDB3 (LIM domain-binding protein 3)
R31L (p.Arg31Leu) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
R31L (p.Arg31Leu) variant details
- p.Arg31Leu
- TOPMed rs1410128172
- gnomAD rs1410128172
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LDB3 PDZ domain domainome 1.0: score 0.0075