G20D (p.Gly20Asp) variant of LDB3 (LIM domain-binding protein 3)
G20D (p.Gly20Asp) 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 Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- rs1844291597
- ClinGen CA377448772
- ClinVar RCV001923875
- TOPMed rs1844291597
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.65
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.813