T60S (p.Thr60Ser) variant of TMEM43 (Transmembrane protein 43)
T60S (p.Thr60Ser) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T60S (p.Thr60Ser) variant details
- p.Thr60Ser
- rs1695084121
- ClinGen CA351534511
- ClinVar RCV001915715
- gnomAD rs1695084121
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.10
- MetaLR 0.20
- MetaSVM -0.83
- CADD 24.10
- SIFT 0.01
- 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 6.5e-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)