G46C (p.Gly46Cys) variant of LDB3 (LIM domain-binding protein 3)
G46C (p.Gly46Cys) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from ClinVar 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 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G46C (p.Gly46Cys) variant details
- p.Gly46Cys
- ExAC rs776046497
- TOPMed rs776046497
- gnomAD rs776046497
- Uncertain significance
- Myofibrillar myopathy 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.58
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 4; Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.152