P34R (p.Pro34Arg) variant of LDB3 (LIM domain-binding protein 3)
P34R (p.Pro34Arg) 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 Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- rs2492563180
- ClinGen CA377451019
- ClinVar RCV003504038
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.54
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0408