G19E (p.Gly19Glu) variant of LDB3 (LIM domain-binding protein 3)
G19E (p.Gly19Glu) 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 experimental measurements and structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- rs753314972
- ClinGen CA377448767
- ClinVar RCV001205109
- ExAC rs753314972
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- AlphaMissense 1.00
- MetaLR 0.34
- MetaSVM -0.01
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.73
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.536