A166V (p.Ala166Val) variant of LDB3 (LIM domain-binding protein 3)
A166V (p.Ala166Val) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Neuromuscular disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A166V (p.Ala166Val) variant details
- p.Ala166Val
- rs121908334
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Neuromuscular disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.86
- MetaLR 0.76
- MetaSVM 0.49
- CADD 24.70
- PolyPhen-2 0.72
- SIFT 0.35
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Neuromuscular disease; not provided)
- UniProt: Likely pathogenic (in MFM4)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available