G19R (p.Gly19Arg) variant of LDB3 (LIM domain-binding protein 3)
G19R (p.Gly19Arg) 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; Dilated cardiomyopathy 1C; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- rs777413488
- ClinGen CA5584569
- ClinVar RCV001242293
- ClinVar RCV002348825
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1C; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.54
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1C; Myofibrilla)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.536
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)