A3T (p.Ala3Thr) variant of TMEM43 (Transmembrane protein 43)
A3T (p.Ala3Thr) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs2470170038
- ClinGen CA351533968
- ClinVar RCV003109027
- ClinVar RCV005505621
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.09
- CADD 20.70
- PolyPhen-2 0.04
- SIFT 0.53
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phe)
- 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)