T60A (p.Thr60Ala) variant of TMEM43 (Transmembrane protein 43)
T60A (p.Thr60Ala) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T60A (p.Thr60Ala) variant details
- p.Thr60Ala
- rs1695084121
- ClinGen CA351534512
- ClinVar RCV001875078
- gnomAD rs1695084121
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.15
- MetaLR 0.18
- MetaSVM -0.89
- CADD 24.70
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)