Q42H (p.Gln42His) variant of LDB3 (LIM domain-binding protein 3)
Q42H (p.Gln42His) in LDB3 (LIM domain-binding protein 3) is a missense 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, and structural context.
Q42H (p.Gln42His) variant details
- p.Gln42His
- TOPMed rs1177908121
- gnomAD rs1177908121
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.10
- CADD 23.70
- PolyPhen-2 0.94
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.147