T60M (p.Thr60Met) variant of TMEM43 (Transmembrane protein 43)
T60M (p.Thr60Met) 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 Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T60M (p.Thr60Met) variant details
- p.Thr60Met
- rs1362645227
- ClinGen CA351534515
- ClinVar RCV001057030
- ClinVar RCV002400326
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.25
- MetaLR 0.14
- MetaSVM -0.94
- CADD 23.20
- PolyPhen-2 0.53
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right v)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)