Q18H (p.Gln18His) variant of LDB3 (LIM domain-binding protein 3)
Q18H (p.Gln18His) 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 Cardiovascular phenotype; Dilated cardiomyopathy 1C; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- rs149348427
- ClinGen CA308654
- ClinVar RCV000183544
- ClinVar RCV000763672
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 1C; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.31
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Dilated cardiomyopathy 1C; Myofibrilla)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0951
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)