V5M (p.Val5Met) variant of LDB3 (LIM domain-binding protein 3)
V5M (p.Val5Met) 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; Dilated cardiomyopathy 1C; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- rs773170985
- ClinGen CA5584562
- ClinVar RCV001774003
- ClinVar RCV002034481
- Uncertain significance
- Myofibrillar myopathy 4; Dilated cardiomyopathy 1C; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.59
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 4; Dilated cardiomyopathy 1C; Cardiovascul)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.349
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)