L17P (p.Leu17Pro) variant of LDB3 (LIM domain-binding protein 3)
L17P (p.Leu17Pro) 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 0.50 / 1. The record also includes experimental measurements and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- rs2132320405
- ClinGen CA377448756
- ClinVar RCV002026668
- Ensembl rs2132320405
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- AlphaMissense 1.00
- MetaLR 0.35
- MetaSVM 0.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.509