A39T (p.Ala39Thr) variant of LDB3 (LIM domain-binding protein 3)
A39T (p.Ala39Thr) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- gnomAD 10-86679388-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.40
- CADD 28.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0586
- Literature evidence available