K37M (p.Lys37Met) variant of LDB3 (LIM domain-binding protein 3)
K37M (p.Lys37Met) 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 0.42 / 1. The record also includes experimental measurements and structural context.
K37M (p.Lys37Met) variant details
- p.Lys37Met
- rs2132360031
- ClinGen CA377451067
- ClinVar RCV001882961
- Ensembl rs2132360031
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.95
- MetaLR 0.29
- MetaSVM -0.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.47
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0815