Q42S (p.Gln42Ser) variant of LDB3 (LIM domain-binding protein 3)
Q42S (p.Gln42Ser) in LDB3 (LIM domain-binding protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q42S (p.Gln42Ser) variant details
- p.Gln42Ser
- gnomAD 10-86679394-TCCCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 32.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.147
- Literature evidence available