K70Q (p.Lys70Gln) variant of LDB3 (LIM domain-binding protein 3)
K70Q (p.Lys70Gln) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K70Q (p.Lys70Gln) variant details
- p.Lys70Gln
- gnomAD 10-86679481-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.47
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0299
- Literature evidence available