R11Q (p.Arg11Gln) variant of TMEM43 (Transmembrane protein 43)
R11Q (p.Arg11Gln) 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 Cardiovascular phenotype; not provided; Arrhythmogenic right ventricular dysplas. 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.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- rs568179990
- ClinGen CA052949
- ClinVar RCV000777688
- ClinVar RCV001323436
- Uncertain significance
- Cardiovascular phenotype; not provided; Arrhythmogenic right ventricular dysplas
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.05
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Arrhythmogenic right ven)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)