L17L (p.Leu17Leu) variant of LDB3 (LIM domain-binding protein 3)
L17L (p.Leu17Leu) in LDB3 (LIM domain-binding protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L17L (p.Leu17Leu) variant details
- p.Leu17Leu
- gnomAD 10-86668742-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.509
- Literature evidence available