S23T (p.Ser23Thr) variant of ABCC9 (O60706)
S23T (p.Ser23Thr) in ABCC9 (O60706) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S23T (p.Ser23Thr) variant details
- p.Ser23Thr
- rs1949497438
- ClinGen CA384133786
- ClinVar RCV001171152
- TOPMed rs1949497438
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.31
- CADD 5.87
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.026)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)