G11E (p.Gly11Glu) variant of LDB3 (LIM domain-binding protein 3)
G11E (p.Gly11Glu) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G11E (p.Gly11Glu) variant details
- p.Gly11Glu
- gnomAD 10-86668723-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.26
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0785
- Literature evidence available