S71A (p.Ser71Ala) variant of LDB3 (LIM domain-binding protein 3)
S71A (p.Ser71Ala) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myofibrillar myopathy 4. The record also includes experimental measurements and structural context.
S71A (p.Ser71Ala) variant details
- p.Ser71Ala
- rs2492565035
- ClinGen CA377451477
- ClinVar RCV003054950
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0207