L27P (p.Leu27Pro) variant of LDB3 (LIM domain-binding protein 3)
L27P (p.Leu27Pro) 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; not specified; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- rs1057517864
- ClinGen CA16042803
- ClinVar RCV000414048
- ClinVar RCV000800067
- Uncertain significance
- Cardiovascular phenotype; not specified; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.68
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.375