I29V (p.Ile29Val) variant of LDB3 (LIM domain-binding protein 3)
I29V (p.Ile29Val) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I29V (p.Ile29Val) variant details
- p.Ile29Val
- gnomAD 10-86668776-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.12
- CADD 27.30
- 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