F47S (p.Phe47Ser) variant of TMEM43 (Transmembrane protein 43)
F47S (p.Phe47Ser) 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 Arrhythmogenic right ventricular dysplasia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
F47S (p.Phe47Ser) variant details
- p.Phe47Ser
- rs1695065567
- ClinGen CA351534418
- ClinVar RCV004014197
- TOPMed rs1695065567
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.41
- MetaLR 0.13
- MetaSVM -0.93
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.19
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)