S4R (p.Ser4Arg) variant of LDB3 (LIM domain-binding protein 3)
S4R (p.Ser4Arg) 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 specified; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- rs727505295
- ClinGen CA185660
- ClinVar RCV000156828
- ClinVar RCV003611499
- Uncertain significance
- not specified; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.32
- CADD 29.40
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Myofibrillar myopathy 4)
- 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 -0.0755