S9R (p.Ser9Arg) variant of TMEM43 (Transmembrane protein 43)
S9R (p.Ser9Arg) 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 0.03 / 1. The record also includes population frequency data, published literature, and structural context.
S9R (p.Ser9Arg) variant details
- p.Ser9Arg
- rs1054032061
- ClinGen CA351534180
- ClinVar RCV003533505
- Ensembl rs1054032061
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0349
- REVEL 0.01
- CADD 1.38
- PolyPhen-2 0.05
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)