W13* (p.Trp13Ter) variant of LDB3 (LIM domain-binding protein 3)
W13* (p.Trp13Ter) in LDB3 (LIM domain-binding protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W13* (p.Trp13Ter) variant details
- p.Trp13Ter
- gnomAD 10-86668729-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 44.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score 0.0349
- Literature evidence available