L17M (p.Leu17Met) variant of LDB3 (LIM domain-binding protein 3)
L17M (p.Leu17Met) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- gnomAD 10-86668740-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.34
- CADD 24.30
- PolyPhen-2 0.83
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.509
- Literature evidence available