D58N (p.Asp58Asn) variant of LDB3 (LIM domain-binding protein 3)
D58N (p.Asp58Asn) 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 Cardiovascular phenotype; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D58N (p.Asp58Asn) variant details
- p.Asp58Asn
- rs730880127
- ClinGen CA346419
- ClinVar RCV000157286
- ClinVar RCV001337557
- Uncertain significance
- Cardiovascular phenotype; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.23
- CADD 28.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Myofibrillar myopathy 4)
- 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 -0.0597
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)