L48L (p.Leu48Leu) variant of LDB3 (LIM domain-binding protein 3)
L48L (p.Leu48Leu) in LDB3 (LIM domain-binding protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L48L (p.Leu48Leu) variant details
- p.Leu48Leu
- rs397517213
- gnomAD 10-86679417-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0851
- CADD 0.63
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0665
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)