R28W (p.Arg28Trp) variant of TMEM43 (Transmembrane protein 43)
R28W (p.Arg28Trp) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Auditory neuropathy, autosomal dominant 3; Arrhythmogenic right ventricular dysp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R28W (p.Arg28Trp) variant details
- p.Arg28Trp
- rs35028636
- ClinGen CA024766
- ClinVar RCV000039392
- ClinVar RCV000231100
- Benign/Likely benign
- Auditory neuropathy, autosomal dominant 3; Arrhythmogenic right ventricular dysp
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.40
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Benign/Likely benign (Auditory neuropathy, autosomal dominant 3; Arrhythmogenic right)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DRUZE population (allele frequency 0.071)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)