A38T (p.Ala38Thr) variant of LDB3 (LIM domain-binding protein 3)
A38T (p.Ala38Thr) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- ExAC rs771189193
- gnomAD rs771189193
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.77
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.676