S73N (p.Ser73Asn) variant of LDB3 (LIM domain-binding protein 3)
S73N (p.Ser73Asn) 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 0.32 / 1. The record also includes experimental measurements and structural context.
S73N (p.Ser73Asn) variant details
- p.Ser73Asn
- rs1844992525
- ClinGen CA377451489
- ClinVar RCV002613632
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.14
- MetaLR 0.07
- MetaSVM -1.03
- PolyPhen-2 0.13
- SIFT 1.00
- MutPred 0.51
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0187