S46T (p.Ser46Thr) variant of TMEM43 (Transmembrane protein 43)
S46T (p.Ser46Thr) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S46T (p.Ser46Thr) variant details
- p.Ser46Thr
- rs145510310
- ClinGen CA351534409
- ClinVar RCV001062775
- ESP rs145510310
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.15
- CADD 23.70
- PolyPhen-2 0.34
- SIFT 0.02
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)