Q42P (p.Gln42Pro) variant of LDB3 (LIM domain-binding protein 3)
Q42P (p.Gln42Pro) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q42P (p.Gln42Pro) variant details
- p.Gln42Pro
- 1000Genomes rs2132360110
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.18
- CADD 25.70
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.147