R16C (p.Arg16Cys) variant of LDB3 (LIM domain-binding protein 3)
R16C (p.Arg16Cys) 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 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- rs1844290057
- ClinGen CA377448750
- cosmic curated COSV53944
- ClinVar RCV002895061
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.47
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0089