p.Leu17 Gln18insPro variant of LDB3 (LIM domain-binding protein 3)
p.Leu17 Gln18insPro in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Leu17 Gln18insPro variant details
- gnomAD 10-86668742-G-GCC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 21.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.509
- Literature evidence available