V55I (p.Val55Ile) variant of LDB3 (LIM domain-binding protein 3)
V55I (p.Val55Ile) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1C; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V55I (p.Val55Ile) variant details
- p.Val55Ile
- rs3740343
- ClinGen CA136549
- cosmic curated COSV53952
- ClinVar RCV000038739
- Benign/Likely benign
- Cardiovascular phenotype; Dilated cardiomyopathy 1C; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.04
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 0.19
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; Dilated cardiomyopathy 1C; Myofibrilla)
- EBI: Benign (in dbSNP:rs3740343)
- UniProt: Benign (in dbSNP:rs3740343)
- Most common in the HGDP:XIBO population (allele frequency 0.22)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0084
- Cited in: A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. (PMID 14660611)
- Cited in: Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. (PMID 16427346)