G20A (p.Gly20Ala) variant of LDB3 (LIM domain-binding protein 3)
G20A (p.Gly20Ala) in LDB3 (LIM domain-binding protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G20A (p.Gly20Ala) variant details
- p.Gly20Ala
- rs1308589918
- gnomAD 10-86668744-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.813
- Literature evidence available