L43L (p.Leu43Leu) variant of LDB3 (LIM domain-binding protein 3)
L43L (p.Leu43Leu) in LDB3 (LIM domain-binding protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- rs772734712
- gnomAD 10-86679402-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 9.29
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.918
- Literature evidence available