S30C (p.Ser30Cys) variant of LDB3 (LIM domain-binding protein 3)
S30C (p.Ser30Cys) 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 0.43 / 1. The record also includes experimental measurements and structural context.
S30C (p.Ser30Cys) variant details
- p.Ser30Cys
- rs1844293917
- ClinGen CA377448843
- ClinVar RCV002811412
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.99
- MetaLR 0.33
- MetaSVM -0.21
- PolyPhen-2 0.69
- SIFT 0.00
- MutPred 0.58
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0942