Q18Q (p.Gln18Gln) variant of LDB3 (LIM domain-binding protein 3)
Q18Q (p.Gln18Gln) in LDB3 (LIM domain-binding protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q18Q (p.Gln18Gln) variant details
- p.Gln18Gln
- rs149348427
- gnomAD 10-86668745-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 10.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0951
- Literature evidence available