P12L (p.Pro12Leu) variant of LDB3 (LIM domain-binding protein 3)
P12L (p.Pro12Leu) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- rs2492473876
- ClinGen CA377448723
- ClinVar RCV004517255
- cosmic curated COSV53939
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.54
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.307