G46V (p.Gly46Val) variant of LDB3 (LIM domain-binding protein 3)
G46V (p.Gly46Val) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- gnomAD 10-86679410-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.60
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.152
- Literature evidence available