G19W (p.Gly19Trp) variant of LDB3 (LIM domain-binding protein 3)
G19W (p.Gly19Trp) 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; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G19W (p.Gly19Trp) variant details
- p.Gly19Trp
- rs777413488
- ClinGen CA377448765
- ClinVar RCV000795954
- ClinVar RCV004639356
- Uncertain significance
- Cardiovascular phenotype; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.56
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.536