V50A (p.Val50Ala) variant of LDB3 (LIM domain-binding protein 3)
V50A (p.Val50Ala) 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.
V50A (p.Val50Ala) variant details
- p.Val50Ala
- rs1844986603
- ClinGen CA377451229
- ClinVar RCV001306227
- Ensembl rs1844986603
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.66
- MetaLR 0.20
- MetaSVM -0.70
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.63
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.115