A39P (p.Ala39Pro) variant of LDB3 (LIM domain-binding protein 3)
A39P (p.Ala39Pro) 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 0.57 / 1. The record also includes experimental measurements and structural context.
A39P (p.Ala39Pro) variant details
- p.Ala39Pro
- rs1844983837
- ClinGen CA377451087
- ClinVar RCV001232957
- Ensembl rs1844983837
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- AlphaMissense 0.99
- MetaLR 0.49
- MetaSVM 0.17
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.73
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0586