T59A (p.Thr59Ala) variant of LDB3 (LIM domain-binding protein 3)
T59A (p.Thr59Ala) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Myofibrillar myopathy 4; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T59A (p.Thr59Ala) variant details
- p.Thr59Ala
- rs1219221888
- ClinGen CA377451323
- ClinVar RCV003846448
- ClinVar RCV005662751
- Conflicting interpretations
- Myofibrillar myopathy 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.07
- CADD 21.90
- PolyPhen-2 0.39
- SIFT 0.37
- ClinVar: Conflicting classifications of pathogenicity (Myofibrillar myopathy 4; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0495