L27F (p.Leu27Phe) variant of LDB3 (LIM domain-binding protein 3)
L27F (p.Leu27Phe) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L27F (p.Leu27Phe) variant details
- p.Leu27Phe
- rs1554844343
- ClinGen CA377448823
- ClinVar RCV000521458
- Ensembl rs1554844343
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.36
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.375