A51V (p.Ala51Val) variant of LDB3 (LIM domain-binding protein 3)
A51V (p.Ala51Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- rs1408157154
- ClinGen CA377451242
- ClinVar RCV002630908
- TOPMed rs1408157154
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- AlphaMissense 0.76
- MetaLR 0.29
- MetaSVM -0.36
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.74
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0803