A38A (p.Ala38Ala) variant of LDB3 (LIM domain-binding protein 3)
A38A (p.Ala38Ala) in LDB3 (LIM domain-binding protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A38A (p.Ala38Ala) variant details
- p.Ala38Ala
- rs556222085
- gnomAD 10-86679387-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0962
- CADD 2.19
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.676
- Literature evidence available