I29L (p.Ile29Leu) variant of LDB3 (LIM domain-binding protein 3)
I29L (p.Ile29Leu) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I29L (p.Ile29Leu) variant details
- p.Ile29Leu
- gnomAD 10-86668776-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.37
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.897
- Literature evidence available