T6I (p.Thr6Ile) variant of LDB3 (LIM domain-binding protein 3)
T6I (p.Thr6Ile) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T6I (p.Thr6Ile) variant details
- p.Thr6Ile
- gnomAD 10-86668708-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.20
- CADD 25.90
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0592
- Literature evidence available