G54R (p.Gly54Arg) variant of LDB3 (LIM domain-binding protein 3)
G54R (p.Gly54Arg) 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 0.44 / 1. The record also includes experimental measurements and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- rs201786090
- ClinGen CA377451271
- ClinVar RCV001963459
- 1000Genomes rs201786090
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.48
- MetaLR 0.39
- MetaSVM -0.04
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.128