I52T (p.Ile52Thr) variant of LDB3 (LIM domain-binding protein 3)
I52T (p.Ile52Thr) 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 Dilated cardiomyopathy 1C; Myofibrillar myopathy 4; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I52T (p.Ile52Thr) variant details
- p.Ile52Thr
- rs1449865053
- ClinGen CA377451247
- ClinVar RCV001946108
- ClinVar RCV002397952
- Uncertain significance
- Dilated cardiomyopathy 1C; Myofibrillar myopathy 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.60
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1C; Myofibrillar myopathy 4; Cardiovascul)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -1.05
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)