V49M (p.Val49Met) variant of LDB3 (LIM domain-binding protein 3)
V49M (p.Val49Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- rs200645175
- ClinGen CA5584603
- ClinVar RCV001326988
- ClinVar RCV002070150
- Uncertain significance
- Cardiovascular phenotype; Myofibrillar myopathy 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.36
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Myofibrillar myopathy 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -1.05