G46R (p.Gly46Arg) variant of LDB3 (LIM domain-binding protein 3)
G46R (p.Gly46Arg) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- gnomAD 10-86679409-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.64
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.152
- Literature evidence available