L48R (p.Leu48Arg) variant of LDB3 (LIM domain-binding protein 3)
L48R (p.Leu48Arg) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L48R (p.Leu48Arg) variant details
- p.Leu48Arg
- gnomAD 10-86679416-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.42
- CADD 27.30
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0665
- Literature evidence available