S2T (p.Ser2Thr) variant of LDB3 (LIM domain-binding protein 3)
S2T (p.Ser2Thr) 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 0.31 / 1. The record also includes experimental measurements and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- rs1564626023
- ClinGen CA377448663
- ClinVar RCV000687165
- TOPMed rs1564626023
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.16
- MetaLR 0.09
- MetaSVM -0.89
- PolyPhen-2 0.01
- SIFT 0.07
- MutPred 0.31
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LDB3 PDZ domain domainome 1.0: score 0.0033