R31W (p.Arg31Trp) variant of LDB3 (LIM domain-binding protein 3)
R31W (p.Arg31Trp) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R31W (p.Arg31Trp) variant details
- p.Arg31Trp
- rs367792378
- ClinGen CA308659
- ClinVar RCV000183545
- ClinVar RCV000469897
- Uncertain significance
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.41
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00032)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score 0.0075
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)