I69F (p.Ile69Phe) variant of LDB3 (LIM domain-binding protein 3)
I69F (p.Ile69Phe) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I69F (p.Ile69Phe) variant details
- p.Ile69Phe
- gnomAD rs1844992123
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.58
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.396