D53G (p.Asp53Gly) variant of LDB3 (LIM domain-binding protein 3)
D53G (p.Asp53Gly) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D53G (p.Asp53Gly) variant details
- p.Asp53Gly
- rs935307586
- ClinGen CA211209322
- ClinVar RCV002041303
- ClinVar RCV004641895
- Uncertain significance
- Myofibrillar myopathy 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.70
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 4; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.49