G19A (p.Gly19Ala) variant of LDB3 (LIM domain-binding protein 3)
G19A (p.Gly19Ala) 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 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G19A (p.Gly19Ala) variant details
- p.Gly19Ala
- rs753314972
- ClinGen CA5584570
- ClinVar RCV001767037
- ClinVar RCV002032843
- Uncertain significance
- Cardiovascular phenotype; not provided; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.54
- AlphaMissense 1.00
- MetaLR 0.34
- MetaSVM -0.01
- 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 Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.536