A39A (p.Ala39Ala) variant of LDB3 (LIM domain-binding protein 3)
A39A (p.Ala39Ala) in LDB3 (LIM domain-binding protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A39A (p.Ala39Ala) variant details
- p.Ala39Ala
- rs2132360061
- gnomAD 10-86679390-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 8.75
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0586
- Literature evidence available