G54S (p.Gly54Ser) variant of LDB3 (LIM domain-binding protein 3)
G54S (p.Gly54Ser) 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 Cardiovascular phenotype; not provided; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- rs201786090
- ClinGen CA221472
- ClinVar RCV000079441
- ClinVar RCV000706758
- Uncertain significance
- Cardiovascular phenotype; not provided; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.50
- AlphaMissense 0.48
- MetaLR 0.39
- MetaSVM -0.04
- CADD 29.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.128