S2Y (p.Ser2Tyr) variant of LDB3 (LIM domain-binding protein 3)
S2Y (p.Ser2Tyr) 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 Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S2Y (p.Ser2Tyr) variant details
- p.Ser2Tyr
- rs1564626030
- ClinGen CA377448667
- ClinVar RCV000770134
- Ensembl rs1564626030
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.35
- CADD 26.70
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- 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 0.0033
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)