T8N (p.Thr8Asn) variant of TMEM43 (Transmembrane protein 43)
T8N (p.Thr8Asn) 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.
T8N (p.Thr8Asn) variant details
- p.Thr8Asn
- rs1190861510
- ClinGen CA351534179
- ClinVar RCV002465188
- TOPMed rs1190861510
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0334
- REVEL 0.01
- CADD 0.52
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)