V49L (p.Val49Leu) variant of LDB3 (LIM domain-binding protein 3)
V49L (p.Val49Leu) 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 not specified; Myofibrillar myopathy 4; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V49L (p.Val49Leu) variant details
- p.Val49Leu
- rs200645175
- ClinGen CA5584602
- ClinVar RCV001071537
- ClinVar RCV002480445
- Uncertain significance
- not specified; Myofibrillar myopathy 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.36
- CADD 25.80
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Myofibrillar myopathy 4; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -1.05
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)