L48F (p.Leu48Phe) variant of LDB3 (LIM domain-binding protein 3)
L48F (p.Leu48Phe) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L48F (p.Leu48Phe) variant details
- p.Leu48Phe
- gnomAD 10-86679415-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.07
- CADD 19.80
- PolyPhen-2 0.15
- SIFT 0.10
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0665
- Literature evidence available