S71C (p.Ser71Cys) variant of LDB3 (LIM domain-binding protein 3)
S71C (p.Ser71Cys) 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 provided; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S71C (p.Ser71Cys) variant details
- p.Ser71Cys
- rs772249948
- ClinGen CA5584612
- cosmic curated COSV53949
- ClinVar RCV001765346
- Uncertain significance
- Cardiovascular phenotype; not provided; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.25
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0207