S9T (p.Ser9Thr) variant of TMEM43 (Transmembrane protein 43)
S9T (p.Ser9Thr) in TMEM43 (Transmembrane protein 43) 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 0.33 / 1. The record also includes published literature and structural context.
S9T (p.Ser9Thr) variant details
- p.Ser9Thr
- rs1695062743
- ClinGen CA351534183
- ClinVar RCV001524255
- gnomAD rs1695062743
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- AlphaMissense 0.10
- MetaLR 0.10
- MetaSVM -0.94
- PolyPhen-2 0.06
- SIFT 0.07
- MutPred 0.20
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)