S73T (p.Ser73Thr) variant of LDB3 (LIM domain-binding protein 3)
S73T (p.Ser73Thr) 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 Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S73T (p.Ser73Thr) variant details
- p.Ser73Thr
- rs1844992525
- ClinGen CA377451490
- ClinVar RCV001171120
- Ensembl rs1844992525
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.18
- AlphaMissense 0.14
- MetaLR 0.07
- MetaSVM -1.03
- CADD 18.90
- PolyPhen-2 0.13
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0187
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)