S4I (p.Ser4Ile) variant of LDB3 (LIM domain-binding protein 3)
S4I (p.Ser4Ile) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S4I (p.Ser4Ile) variant details
- p.Ser4Ile
- gnomAD 10-86668702-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.22
- CADD 28.30
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0755
- Literature evidence available