D22G (p.Asp22Gly) variant of LDB3 (LIM domain-binding protein 3)
D22G (p.Asp22Gly) in LDB3 (LIM domain-binding protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D22G (p.Asp22Gly) variant details
- p.Asp22Gly
- gnomAD 10-86668745-G-GGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.303
- Literature evidence available