L7P (p.Leu7Pro) variant of LDB3 (LIM domain-binding protein 3)
L7P (p.Leu7Pro) 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.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- gnomAD 10-86668711-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.67
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.174
- Literature evidence available