T59I (p.Thr59Ile) variant of LDB3 (LIM domain-binding protein 3)
T59I (p.Thr59Ile) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T59I (p.Thr59Ile) variant details
- p.Thr59Ile
- gnomAD 10-86679449-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.86
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0495
- Literature evidence available