R16H (p.Arg16His) variant of LDB3 (LIM domain-binding protein 3)
R16H (p.Arg16His) 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.
R16H (p.Arg16His) variant details
- p.Arg16His
- rs767986134
- ClinGen CA5584567
- ClinVar RCV001244847
- ClinVar RCV002327594
- Uncertain significance
- Cardiovascular phenotype; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.57
- 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 0.00035)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0089